SNP Links for Protein (Select 530376179) - SNP

Select item 14896020941.

rs1489602094 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:8097193 (GRCh38)
4:8098920 (GRCh37)
Canonical SPDI:: NC_000004.12:8097192:G:A
Gene:: ABLIM2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000004.12:g.8097193G>A, NC_000004.11:g.8098920G>A, XM_005248014.6:c.259C>T, XM_005248014.5:c.259C>T, XM_005248014.4:c.259C>T, XM_005248014.3:c.259C>T, XM_005248014.2:c.259C>T, XM_005248014.1:c.259C>T, XM_005248021.6:c.259C>T, XM_005248021.5:c.259C>T, XM_005248021.4:c.259C>T, XM_005248021.3:c.259C>T, XM_005248021.2:c.259C>T, XM_005248021.1:c.259C>T, XM_005248028.6:c.259C>T, XM_005248028.5:c.259C>T, XM_005248028.4:c.259C>T, XM_005248028.3:c.259C>T, XM_005248028.2:c.259C>T, XM_005248028.1:c.259C>T, XM_005248017.5:c.259C>T, XM_005248017.4:c.259C>T, XM_005248017.3:c.259C>T, XM_005248017.2:c.259C>T, XM_005248017.1:c.259C>T, XM_006713923.5:c.259C>T, XM_006713923.4:c.259C>T, XM_006713923.3:c.259C>T, XM_006713923.2:c.259C>T, XM_006713923.1:c.259C>T, XM_006713924.5:c.259C>T, XM_006713924.4:c.259C>T, XM_006713924.3:c.259C>T, XM_006713924.2:c.259C>T, XM_006713924.1:c.259C>T, XM_005248019.5:c.259C>T, XM_005248019.4:c.259C>T, XM_005248019.3:c.259C>T, XM_005248019.2:c.259C>T, XM_005248019.1:c.259C>T, XM_005248020.5:c.259C>T, XM_005248020.4:c.259C>T, XM_005248020.3:c.259C>T, XM_005248020.2:c.259C>T, XM_005248020.1:c.259C>T, XM_005248022.5:c.259C>T, XM_005248022.4:c.259C>T, XM_005248022.3:c.259C>T, XM_005248022.2:c.259C>T, XM_005248022.1:c.259C>T, XM_005248023.5:c.259C>T, XM_005248023.4:c.259C>T, XM_005248023.3:c.259C>T, XM_005248023.2:c.259C>T, XM_005248023.1:c.259C>T, XM_005248024.5:c.259C>T, XM_005248024.4:c.259C>T, XM_005248024.3:c.259C>T, XM_005248024.2:c.259C>T, XM_005248024.1:c.259C>T, XM_005248027.5:c.259C>T, XM_005248027.4:c.259C>T, XM_005248027.3:c.259C>T, XM_005248027.2:c.259C>T, XM_005248027.1:c.259C>T, NM_032432.5:c.244C>T, NM_032432.4:c.244C>T, XM_005248029.5:c.259C>T, XM_005248029.4:c.259C>T, XM_005248029.3:c.259C>T, XM_005248029.2:c.259C>T, XM_005248029.1:c.259C>T, XM_005248030.5:c.259C>T, XM_005248030.4:c.259C>T, XM_005248030.3:c.259C>T, XM_005248030.2:c.259C>T, XM_005248030.1:c.259C>T, XM_005248031.5:c.259C>T, XM_005248031.4:c.259C>T, XM_005248031.3:c.259C>T, XM_005248031.2:c.259C>T, XM_005248031.1:c.259C>T, XM_006713925.4:c.259C>T, XM_006713925.3:c.259C>T, XM_006713925.2:c.259C>T, XM_006713925.1:c.259C>T, XM_006713927.4:c.259C>T, XM_006713927.3:c.259C>T, XM_006713927.2:c.259C>T, XM_006713927.1:c.259C>T, XM_011513586.4:c.259C>T, XM_011513586.3:c.259C>T, XM_011513586.2:c.259C>T, XM_011513586.1:c.259C>T, XM_017008715.3:c.259C>T, XM_017008715.2:c.259C>T, XM_017008715.1:c.259C>T, XM_017008720.3:c.259C>T, XM_017008720.2:c.259C>T, XM_017008720.1:c.259C>T, NM_001130083.2:c.244C>T, NM_001130083.1:c.244C>T, NM_001130084.2:c.244C>T, NM_001130084.1:c.244C>T, NM_001130085.2:c.244C>T, NM_001130085.1:c.244C>T, NM_001130086.2:c.244C>T, NM_001130086.1:c.244C>T, NM_001130087.2:c.244C>T, NM_001130087.1:c.244C>T, XM_017008723.2:c.244C>T, XM_017008723.1:c.244C>T, NM_001130088.2:c.244C>T, NM_001130088.1:c.244C>T, XM_017008725.2:c.244C>T, XM_017008725.1:c.244C>T, XM_047416299.1:c.244C>T, XM_047416297.1:c.259C>T, XM_047416298.1:c.259C>T, XM_047416301.1:c.244C>T, XM_047416300.1:c.259C>T, XM_047416302.1:c.259C>T, XM_047416308.1:c.244C>T, XM_047416303.1:c.259C>T, XM_047416305.1:c.259C>T, XM_047416306.1:c.259C>T, XM_047416307.1:c.259C>T, XM_047416309.1:c.259C>T, XM_047416310.1:c.259C>T, XM_047416311.1:c.259C>T, XM_047416312.1:c.259C>T, XM_047416313.1:c.259C>T, XM_047416316.1:c.259C>T, XM_047416317.1:c.244C>T, XM_047416318.1:c.244C>T, XM_047416314.1:c.259C>T, XM_047416315.1:c.259C>T, XP_005248071.1:p.Arg87Cys, XP_005248078.1:p.Arg87Cys, XP_005248085.1:p.Arg87Cys, XP_005248074.1:p.Arg87Cys, XP_006713986.1:p.Arg87Cys, XP_006713987.1:p.Arg87Cys, XP_005248076.1:p.Arg87Cys, XP_005248077.1:p.Arg87Cys, XP_005248079.1:p.Arg87Cys, XP_005248080.1:p.Arg87Cys, XP_005248081.1:p.Arg87Cys, XP_005248084.1:p.Arg87Cys, NP_115808.3:p.Arg82Cys, XP_005248086.1:p.Arg87Cys, XP_005248087.1:p.Arg87Cys, XP_005248088.1:p.Arg87Cys, XP_006713988.1:p.Arg87Cys, XP_006713990.1:p.Arg87Cys, XP_011511888.1:p.Arg87Cys, XP_016864204.1:p.Arg87Cys, XP_016864209.1:p.Arg87Cys, NP_001123555.1:p.Arg82Cys, NP_001123556.1:p.Arg82Cys, NP_001123557.1:p.Arg82Cys, NP_001123558.1:p.Arg82Cys, NP_001123559.1:p.Arg82Cys, XP_016864212.1:p.Arg82Cys, NP_001123560.1:p.Arg82Cys, XP_016864214.1:p.Arg82Cys, XP_047272255.1:p.Arg82Cys, XP_047272253.1:p.Arg87Cys, XP_047272254.1:p.Arg87Cys, XP_047272257.1:p.Arg82Cys, XP_047272256.1:p.Arg87Cys, XP_047272258.1:p.Arg87Cys, XP_047272264.1:p.Arg82Cys, XP_047272259.1:p.Arg87Cys, XP_047272261.1:p.Arg87Cys, XP_047272262.1:p.Arg87Cys, XP_047272263.1:p.Arg87Cys, XP_047272265.1:p.Arg87Cys, XP_047272266.1:p.Arg87Cys, XP_047272267.1:p.Arg87Cys, XP_047272268.1:p.Arg87Cys, XP_047272269.1:p.Arg87Cys, XP_047272272.1:p.Arg87Cys, XP_047272273.1:p.Arg82Cys, XP_047272274.1:p.Arg82Cys, XP_047272270.1:p.Arg87Cys, XP_047272271.1:p.Arg87Cys

Select item 14882566412.

rs1488256641 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:8088239 (GRCh38)
4:8089966 (GRCh37)
Canonical SPDI:: NC_000004.12:8088238:T:C
Gene:: ABLIM2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
C=0.00002/5 (GnomAD_exomes)
HGVS:: NC_000004.12:g.8088239T>C, NC_000004.11:g.8089966T>C, XM_005248014.6:c.399A>G, XM_005248014.5:c.399A>G, XM_005248014.4:c.399A>G, XM_005248014.3:c.399A>G, XM_005248014.2:c.399A>G, XM_005248014.1:c.399A>G, XM_005248021.6:c.399A>G, XM_005248021.5:c.399A>G, XM_005248021.4:c.399A>G, XM_005248021.3:c.399A>G, XM_005248021.2:c.399A>G, XM_005248021.1:c.399A>G, XM_005248028.6:c.399A>G, XM_005248028.5:c.399A>G, XM_005248028.4:c.399A>G, XM_005248028.3:c.399A>G, XM_005248028.2:c.399A>G, XM_005248028.1:c.399A>G, XM_005248017.5:c.399A>G, XM_005248017.4:c.399A>G, XM_005248017.3:c.399A>G, XM_005248017.2:c.399A>G, XM_005248017.1:c.399A>G, XM_006713923.5:c.399A>G, XM_006713923.4:c.399A>G, XM_006713923.3:c.399A>G, XM_006713923.2:c.399A>G, XM_006713923.1:c.399A>G, XM_006713924.5:c.399A>G, XM_006713924.4:c.399A>G, XM_006713924.3:c.399A>G, XM_006713924.2:c.399A>G, XM_006713924.1:c.399A>G, XM_005248019.5:c.399A>G, XM_005248019.4:c.399A>G, XM_005248019.3:c.399A>G, XM_005248019.2:c.399A>G, XM_005248019.1:c.399A>G, XM_005248020.5:c.399A>G, XM_005248020.4:c.399A>G, XM_005248020.3:c.399A>G, XM_005248020.2:c.399A>G, XM_005248020.1:c.399A>G, XM_005248022.5:c.399A>G, XM_005248022.4:c.399A>G, XM_005248022.3:c.399A>G, XM_005248022.2:c.399A>G, XM_005248022.1:c.399A>G, XM_005248023.5:c.399A>G, XM_005248023.4:c.399A>G, XM_005248023.3:c.399A>G, XM_005248023.2:c.399A>G, XM_005248023.1:c.399A>G, XM_005248024.5:c.399A>G, XM_005248024.4:c.399A>G, XM_005248024.3:c.399A>G, XM_005248024.2:c.399A>G, XM_005248024.1:c.399A>G, XM_005248027.5:c.399A>G, XM_005248027.4:c.399A>G, XM_005248027.3:c.399A>G, XM_005248027.2:c.399A>G, XM_005248027.1:c.399A>G, NM_032432.5:c.384A>G, NM_032432.4:c.384A>G, XM_005248029.5:c.399A>G, XM_005248029.4:c.399A>G, XM_005248029.3:c.399A>G, XM_005248029.2:c.399A>G, XM_005248029.1:c.399A>G, XM_005248030.5:c.399A>G, XM_005248030.4:c.399A>G, XM_005248030.3:c.399A>G, XM_005248030.2:c.399A>G, XM_005248030.1:c.399A>G, XM_005248031.5:c.399A>G, XM_005248031.4:c.399A>G, XM_005248031.3:c.399A>G, XM_005248031.2:c.399A>G, XM_005248031.1:c.399A>G, XM_006713925.4:c.399A>G, XM_006713925.3:c.399A>G, XM_006713925.2:c.399A>G, XM_006713925.1:c.399A>G, XM_006713927.4:c.399A>G, XM_006713927.3:c.399A>G, XM_006713927.2:c.399A>G, XM_006713927.1:c.399A>G, XM_011513586.4:c.399A>G, XM_011513586.3:c.399A>G, XM_011513586.2:c.399A>G, XM_011513586.1:c.399A>G, XM_017008715.3:c.399A>G, XM_017008715.2:c.399A>G, XM_017008715.1:c.399A>G, XM_017008720.3:c.399A>G, XM_017008720.2:c.399A>G, XM_017008720.1:c.399A>G, NM_001130083.2:c.384A>G, NM_001130083.1:c.384A>G, NM_001130084.2:c.384A>G, NM_001130084.1:c.384A>G, NM_001130085.2:c.384A>G, NM_001130085.1:c.384A>G, NM_001130086.2:c.384A>G, NM_001130086.1:c.384A>G, NM_001130087.2:c.384A>G, NM_001130087.1:c.384A>G, XM_017008723.2:c.384A>G, XM_017008723.1:c.384A>G, NM_001130088.2:c.384A>G, NM_001130088.1:c.384A>G, XM_017008725.2:c.384A>G, XM_017008725.1:c.384A>G, XM_047416299.1:c.384A>G, XM_047416297.1:c.399A>G, XM_047416298.1:c.399A>G, XM_047416301.1:c.384A>G, XM_047416300.1:c.399A>G, XM_047416302.1:c.399A>G, XM_047416308.1:c.384A>G, XM_047416303.1:c.399A>G, XM_047416305.1:c.399A>G, XM_047416306.1:c.399A>G, XM_047416307.1:c.399A>G, XM_047416309.1:c.399A>G, XM_047416310.1:c.399A>G, XM_047416311.1:c.399A>G, XM_047416312.1:c.399A>G, XM_047416313.1:c.399A>G, XM_047416316.1:c.399A>G, XM_047416317.1:c.384A>G, XM_047416318.1:c.384A>G, XM_047416314.1:c.399A>G, XM_047416315.1:c.399A>G

Select item 14864961153.

rs1486496115 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:8106620 (GRCh38)
4:8108347 (GRCh37)
Canonical SPDI:: NC_000004.12:8106619:C:G
Gene:: ABLIM2 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.8106620C>G, NC_000004.11:g.8108347C>G, XM_005248014.6:c.43G>C, XM_005248014.5:c.43G>C, XM_005248014.4:c.43G>C, XM_005248014.3:c.43G>C, XM_005248014.2:c.43G>C, XM_005248014.1:c.43G>C, XM_005248021.6:c.43G>C, XM_005248021.5:c.43G>C, XM_005248021.4:c.43G>C, XM_005248021.3:c.43G>C, XM_005248021.2:c.43G>C, XM_005248021.1:c.43G>C, XM_005248028.6:c.43G>C, XM_005248028.5:c.43G>C, XM_005248028.4:c.43G>C, XM_005248028.3:c.43G>C, XM_005248028.2:c.43G>C, XM_005248028.1:c.43G>C, XM_005248017.5:c.43G>C, XM_005248017.4:c.43G>C, XM_005248017.3:c.43G>C, XM_005248017.2:c.43G>C, XM_005248017.1:c.43G>C, XM_006713923.5:c.43G>C, XM_006713923.4:c.43G>C, XM_006713923.3:c.43G>C, XM_006713923.2:c.43G>C, XM_006713923.1:c.43G>C, XM_006713924.5:c.43G>C, XM_006713924.4:c.43G>C, XM_006713924.3:c.43G>C, XM_006713924.2:c.43G>C, XM_006713924.1:c.43G>C, XM_005248019.5:c.43G>C, XM_005248019.4:c.43G>C, XM_005248019.3:c.43G>C, XM_005248019.2:c.43G>C, XM_005248019.1:c.43G>C, XM_005248020.5:c.43G>C, XM_005248020.4:c.43G>C, XM_005248020.3:c.43G>C, XM_005248020.2:c.43G>C, XM_005248020.1:c.43G>C, XM_005248022.5:c.43G>C, XM_005248022.4:c.43G>C, XM_005248022.3:c.43G>C, XM_005248022.2:c.43G>C, XM_005248022.1:c.43G>C, XM_005248023.5:c.43G>C, XM_005248023.4:c.43G>C, XM_005248023.3:c.43G>C, XM_005248023.2:c.43G>C, XM_005248023.1:c.43G>C, XM_005248024.5:c.43G>C, XM_005248024.4:c.43G>C, XM_005248024.3:c.43G>C, XM_005248024.2:c.43G>C, XM_005248024.1:c.43G>C, XM_005248027.5:c.43G>C, XM_005248027.4:c.43G>C, XM_005248027.3:c.43G>C, XM_005248027.2:c.43G>C, XM_005248027.1:c.43G>C, NM_032432.5:c.28G>C, NM_032432.4:c.28G>C, XM_005248029.5:c.43G>C, XM_005248029.4:c.43G>C, XM_005248029.3:c.43G>C, XM_005248029.2:c.43G>C, XM_005248029.1:c.43G>C, XM_005248030.5:c.43G>C, XM_005248030.4:c.43G>C, XM_005248030.3:c.43G>C, XM_005248030.2:c.43G>C, XM_005248030.1:c.43G>C, XM_005248031.5:c.43G>C, XM_005248031.4:c.43G>C, XM_005248031.3:c.43G>C, XM_005248031.2:c.43G>C, XM_005248031.1:c.43G>C, XM_006713925.4:c.43G>C, XM_006713925.3:c.43G>C, XM_006713925.2:c.43G>C, XM_006713925.1:c.43G>C, XM_006713927.4:c.43G>C, XM_006713927.3:c.43G>C, XM_006713927.2:c.43G>C, XM_006713927.1:c.43G>C, XM_011513586.4:c.43G>C, XM_011513586.3:c.43G>C, XM_011513586.2:c.43G>C, XM_011513586.1:c.43G>C, XM_017008715.3:c.43G>C, XM_017008715.2:c.43G>C, XM_017008715.1:c.43G>C, XM_017008720.3:c.43G>C, XM_017008720.2:c.43G>C, XM_017008720.1:c.43G>C, NM_001130083.2:c.28G>C, NM_001130083.1:c.28G>C, NM_001130084.2:c.28G>C, NM_001130084.1:c.28G>C, NM_001130085.2:c.28G>C, NM_001130085.1:c.28G>C, NM_001130086.2:c.28G>C, NM_001130086.1:c.28G>C, NM_001130087.2:c.28G>C, NM_001130087.1:c.28G>C, XM_017008723.2:c.28G>C, XM_017008723.1:c.28G>C, NM_001130088.2:c.28G>C, NM_001130088.1:c.28G>C, XM_017008725.2:c.28G>C, XM_017008725.1:c.28G>C, XM_047416299.1:c.28G>C, XM_047416297.1:c.43G>C, XM_047416298.1:c.43G>C, XM_047416301.1:c.28G>C, XM_047416300.1:c.43G>C, XM_047416302.1:c.43G>C, XM_047416308.1:c.28G>C, XM_047416303.1:c.43G>C, XM_047416305.1:c.43G>C, XM_047416306.1:c.43G>C, XM_047416307.1:c.43G>C, XM_047416309.1:c.43G>C, XM_047416310.1:c.43G>C, XM_047416311.1:c.43G>C, XM_047416312.1:c.43G>C, XM_047416313.1:c.43G>C, XM_047416316.1:c.43G>C, XM_047416317.1:c.28G>C, XM_047416318.1:c.28G>C, XM_047416314.1:c.43G>C, XM_047416315.1:c.43G>C, XP_005248071.1:p.Ala15Pro, XP_005248078.1:p.Ala15Pro, XP_005248085.1:p.Ala15Pro, XP_005248074.1:p.Ala15Pro, XP_006713986.1:p.Ala15Pro, XP_006713987.1:p.Ala15Pro, XP_005248076.1:p.Ala15Pro, XP_005248077.1:p.Ala15Pro, XP_005248079.1:p.Ala15Pro, XP_005248080.1:p.Ala15Pro, XP_005248081.1:p.Ala15Pro, XP_005248084.1:p.Ala15Pro, NP_115808.3:p.Ala10Pro, XP_005248086.1:p.Ala15Pro, XP_005248087.1:p.Ala15Pro, XP_005248088.1:p.Ala15Pro, XP_006713988.1:p.Ala15Pro, XP_006713990.1:p.Ala15Pro, XP_011511888.1:p.Ala15Pro, XP_016864204.1:p.Ala15Pro, XP_016864209.1:p.Ala15Pro, NP_001123555.1:p.Ala10Pro, NP_001123556.1:p.Ala10Pro, NP_001123557.1:p.Ala10Pro, NP_001123558.1:p.Ala10Pro, NP_001123559.1:p.Ala10Pro, XP_016864212.1:p.Ala10Pro, NP_001123560.1:p.Ala10Pro, XP_016864214.1:p.Ala10Pro, XP_047272255.1:p.Ala10Pro, XP_047272253.1:p.Ala15Pro, XP_047272254.1:p.Ala15Pro, XP_047272257.1:p.Ala10Pro, XP_047272256.1:p.Ala15Pro, XP_047272258.1:p.Ala15Pro, XP_047272264.1:p.Ala10Pro, XP_047272259.1:p.Ala15Pro, XP_047272261.1:p.Ala15Pro, XP_047272262.1:p.Ala15Pro, XP_047272263.1:p.Ala15Pro, XP_047272265.1:p.Ala15Pro, XP_047272266.1:p.Ala15Pro, XP_047272267.1:p.Ala15Pro, XP_047272268.1:p.Ala15Pro, XP_047272269.1:p.Ala15Pro, XP_047272272.1:p.Ala15Pro, XP_047272273.1:p.Ala10Pro, XP_047272274.1:p.Ala10Pro, XP_047272270.1:p.Ala15Pro, XP_047272271.1:p.Ala15Pro

Select item 14835753024.

rs1483575302 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:8009088 (GRCh38)
4:8010815 (GRCh37)
Canonical SPDI:: NC_000004.12:8009087:C:A
Gene:: ABLIM2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000054/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000016/4 (GnomAD_exomes)
A=0.000029/4 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000004.12:g.8009088C>A, NC_000004.11:g.8010815C>A, XM_005248014.6:c.1606G>T, XM_005248014.5:c.1606G>T, XM_005248014.4:c.1606G>T, XM_005248014.3:c.1606G>T, XM_005248014.2:c.1606G>T, XM_005248014.1:c.1606G>T, XM_005248021.6:c.1486G>T, XM_005248021.5:c.1486G>T, XM_005248021.4:c.1486G>T, XM_005248021.3:c.1486G>T, XM_005248021.2:c.1486G>T, XM_005248021.1:c.1486G>T, XM_005248028.6:c.1231G>T, XM_005248028.5:c.1231G>T, XM_005248028.4:c.1231G>T, XM_005248028.3:c.1231G>T, XM_005248028.2:c.1231G>T, XM_005248028.1:c.1231G>T, XM_005248017.5:c.1606G>T, XM_005248017.4:c.1606G>T, XM_005248017.3:c.1606G>T, XM_005248017.2:c.1606G>T, XM_005248017.1:c.1606G>T, XM_006713923.5:c.1606G>T, XM_006713923.4:c.1606G>T, XM_006713923.3:c.1606G>T, XM_006713923.2:c.1606G>T, XM_006713923.1:c.1606G>T, XM_006713924.5:c.1486G>T, XM_006713924.4:c.1486G>T, XM_006713924.3:c.1486G>T, XM_006713924.2:c.1486G>T, XM_006713924.1:c.1486G>T, XM_005248019.5:c.1453G>T, XM_005248019.4:c.1453G>T, XM_005248019.3:c.1453G>T, XM_005248019.2:c.1453G>T, XM_005248019.1:c.1453G>T, XM_005248020.5:c.1453G>T, XM_005248020.4:c.1453G>T, XM_005248020.3:c.1453G>T, XM_005248020.2:c.1453G>T, XM_005248020.1:c.1453G>T, XM_005248022.5:c.1354G>T, XM_005248022.4:c.1354G>T, XM_005248022.3:c.1354G>T, XM_005248022.2:c.1354G>T, XM_005248022.1:c.1354G>T, XM_005248023.5:c.1453G>T, XM_005248023.4:c.1453G>T, XM_005248023.3:c.1453G>T, XM_005248023.2:c.1453G>T, XM_005248023.1:c.1453G>T, XM_005248024.5:c.1354G>T, XM_005248024.4:c.1354G>T, XM_005248024.3:c.1354G>T, XM_005248024.2:c.1354G>T, XM_005248024.1:c.1354G>T, XM_005248027.5:c.1198G>T, XM_005248027.4:c.1198G>T, XM_005248027.3:c.1198G>T, XM_005248027.2:c.1198G>T, XM_005248027.1:c.1198G>T, NM_032432.5:c.1183G>T, NM_032432.4:c.1183G>T, XM_005248029.5:c.1198G>T, XM_005248029.4:c.1198G>T, XM_005248029.3:c.1198G>T, XM_005248029.2:c.1198G>T, XM_005248029.1:c.1198G>T, XM_005248030.5:c.1198G>T, XM_005248030.4:c.1198G>T, XM_005248030.3:c.1198G>T, XM_005248030.2:c.1198G>T, XM_005248030.1:c.1198G>T, XM_005248031.5:c.1231G>T, XM_005248031.4:c.1231G>T, XM_005248031.3:c.1231G>T, XM_005248031.2:c.1231G>T, XM_005248031.1:c.1231G>T, XM_006713925.4:c.1486G>T, XM_006713925.3:c.1486G>T, XM_006713925.2:c.1486G>T, XM_006713925.1:c.1486G>T, XM_006713927.4:c.1231G>T, XM_006713927.3:c.1231G>T, XM_006713927.2:c.1231G>T, XM_006713927.1:c.1231G>T, XM_011513586.4:c.1606G>T, XM_011513586.3:c.1606G>T, XM_011513586.2:c.1606G>T, XM_011513586.1:c.1606G>T, XM_017008715.3:c.1399G>T, XM_017008715.2:c.1399G>T, XM_017008715.1:c.1399G>T, XM_017008720.3:c.1231G>T, XM_017008720.2:c.1231G>T, XM_017008720.1:c.1231G>T, NM_001130083.2:c.1438G>T, NM_001130083.1:c.1438G>T, NM_001130084.2:c.1339G>T, NM_001130084.1:c.1339G>T, NM_001130085.2:c.1339G>T, NM_001130085.1:c.1339G>T, NM_001130086.2:c.1183G>T, NM_001130086.1:c.1183G>T, NM_001130087.2:c.1216G>T, NM_001130087.1:c.1216G>T, NM_001286688.2:c.541G>T, NM_001286688.1:c.541G>T, XM_017008723.2:c.1471G>T, XM_017008723.1:c.1471G>T, NM_001130088.2:c.1216G>T, NM_001130088.1:c.1216G>T, XM_017008725.2:c.1183G>T, XM_017008725.1:c.1183G>T, XM_047416299.1:c.1591G>T, XM_047416297.1:c.1606G>T, XM_047416298.1:c.1606G>T, XM_047416301.1:c.1558G>T, XM_047416300.1:c.1573G>T, XM_047416302.1:c.1507G>T, XM_047416308.1:c.1459G>T, XM_047416303.1:c.1486G>T, XM_047416305.1:c.1486G>T, XM_047416306.1:c.1474G>T, XM_047416307.1:c.1474G>T, XM_047416309.1:c.1453G>T, XM_047416310.1:c.1453G>T, XM_047416311.1:c.1405G>T, XM_047416312.1:c.1387G>T, XM_047416313.1:c.1387G>T, XM_047416316.1:c.1285G>T, XM_047416317.1:c.1384G>T, XM_047416318.1:c.1183G>T, XM_047416314.1:c.1606G>T, XM_047416315.1:c.1606G>T, XP_005248071.1:p.Asp536Tyr, XP_005248078.1:p.Asp496Tyr, XP_005248085.1:p.Asp411Tyr, XP_005248074.1:p.Asp536Tyr, XP_006713986.1:p.Asp536Tyr, XP_006713987.1:p.Asp496Tyr, XP_005248076.1:p.Asp485Tyr, XP_005248077.1:p.Asp485Tyr, XP_005248079.1:p.Asp452Tyr, XP_005248080.1:p.Asp485Tyr, XP_005248081.1:p.Asp452Tyr, XP_005248084.1:p.Asp400Tyr, NP_115808.3:p.Asp395Tyr, XP_005248086.1:p.Asp400Tyr, XP_005248087.1:p.Asp400Tyr, XP_005248088.1:p.Asp411Tyr, XP_006713988.1:p.Asp496Tyr, XP_006713990.1:p.Asp411Tyr, XP_011511888.1:p.Asp536Tyr, XP_016864204.1:p.Asp467Tyr, XP_016864209.1:p.Asp411Tyr, NP_001123555.1:p.Asp480Tyr, NP_001123556.1:p.Asp447Tyr, NP_001123557.1:p.Asp447Tyr, NP_001123558.1:p.Asp395Tyr, NP_001123559.1:p.Asp406Tyr, NP_001273617.1:p.Asp181Tyr, XP_016864212.1:p.Asp491Tyr, NP_001123560.1:p.Asp406Tyr, XP_016864214.1:p.Asp395Tyr, XP_047272255.1:p.Asp531Tyr, XP_047272253.1:p.Asp536Tyr, XP_047272254.1:p.Asp536Tyr, XP_047272257.1:p.Asp520Tyr, XP_047272256.1:p.Asp525Tyr, XP_047272258.1:p.Asp503Tyr, XP_047272264.1:p.Asp487Tyr, XP_047272259.1:p.Asp496Tyr, XP_047272261.1:p.Asp496Tyr, XP_047272262.1:p.Asp492Tyr, XP_047272263.1:p.Asp492Tyr, XP_047272265.1:p.Asp485Tyr, XP_047272266.1:p.Asp485Tyr, XP_047272267.1:p.Asp469Tyr, XP_047272268.1:p.Asp463Tyr, XP_047272269.1:p.Asp463Tyr, XP_047272272.1:p.Asp429Tyr, XP_047272273.1:p.Asp462Tyr, XP_047272274.1:p.Asp395Tyr, XP_047272270.1:p.Asp536Tyr, XP_047272271.1:p.Asp536Tyr

Select item 14813883185.

rs1481388318 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 4:8127565 (GRCh38)
4:8129292 (GRCh37)
Canonical SPDI:: NC_000004.12:8127564:C:A,NC_000004.12:8127564:C:G,NC_000004.12:8127564:C:T
Gene:: ABLIM2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000007/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
G=0.000468/3 (1000Genomes)
HGVS:: NC_000004.12:g.8127565C>A, NC_000004.12:g.8127565C>G, NC_000004.12:g.8127565C>T, NC_000004.11:g.8129292C>A, NC_000004.11:g.8129292C>G, NC_000004.11:g.8129292C>T, XM_005248014.6:c.7G>T, XM_005248014.6:c.7G>C, XM_005248014.6:c.7G>A, XM_005248014.5:c.7G>T, XM_005248014.5:c.7G>C, XM_005248014.5:c.7G>A, XM_005248014.4:c.7G>T, XM_005248014.4:c.7G>C, XM_005248014.4:c.7G>A, XM_005248014.3:c.7G>T, XM_005248014.3:c.7G>C, XM_005248014.3:c.7G>A, XM_005248014.2:c.7G>T, XM_005248014.2:c.7G>C, XM_005248014.2:c.7G>A, XM_005248014.1:c.7G>T, XM_005248014.1:c.7G>C, XM_005248014.1:c.7G>A, XM_005248021.6:c.7G>T, XM_005248021.6:c.7G>C, XM_005248021.6:c.7G>A, XM_005248021.5:c.7G>T, XM_005248021.5:c.7G>C, XM_005248021.5:c.7G>A, XM_005248021.4:c.7G>T, XM_005248021.4:c.7G>C, XM_005248021.4:c.7G>A, XM_005248021.3:c.7G>T, XM_005248021.3:c.7G>C, XM_005248021.3:c.7G>A, XM_005248021.2:c.7G>T, XM_005248021.2:c.7G>C, XM_005248021.2:c.7G>A, XM_005248021.1:c.7G>T, XM_005248021.1:c.7G>C, XM_005248021.1:c.7G>A, XM_005248028.6:c.7G>T, XM_005248028.6:c.7G>C, XM_005248028.6:c.7G>A, XM_005248028.5:c.7G>T, XM_005248028.5:c.7G>C, XM_005248028.5:c.7G>A, XM_005248028.4:c.7G>T, XM_005248028.4:c.7G>C, XM_005248028.4:c.7G>A, XM_005248028.3:c.7G>T, XM_005248028.3:c.7G>C, XM_005248028.3:c.7G>A, XM_005248028.2:c.7G>T, XM_005248028.2:c.7G>C, XM_005248028.2:c.7G>A, XM_005248028.1:c.7G>T, XM_005248028.1:c.7G>C, XM_005248028.1:c.7G>A, XM_005248017.5:c.7G>T, XM_005248017.5:c.7G>C, XM_005248017.5:c.7G>A, XM_005248017.4:c.7G>T, XM_005248017.4:c.7G>C, XM_005248017.4:c.7G>A, XM_005248017.3:c.7G>T, XM_005248017.3:c.7G>C, XM_005248017.3:c.7G>A, XM_005248017.2:c.7G>T, XM_005248017.2:c.7G>C, XM_005248017.2:c.7G>A, XM_005248017.1:c.7G>T, XM_005248017.1:c.7G>C, XM_005248017.1:c.7G>A, XM_006713923.5:c.7G>T, XM_006713923.5:c.7G>C, XM_006713923.5:c.7G>A, XM_006713923.4:c.7G>T, XM_006713923.4:c.7G>C, XM_006713923.4:c.7G>A, XM_006713923.3:c.7G>T, XM_006713923.3:c.7G>C, XM_006713923.3:c.7G>A, XM_006713923.2:c.7G>T, XM_006713923.2:c.7G>C, XM_006713923.2:c.7G>A, XM_006713923.1:c.7G>T, XM_006713923.1:c.7G>C, XM_006713923.1:c.7G>A, XM_006713924.5:c.7G>T, XM_006713924.5:c.7G>C, XM_006713924.5:c.7G>A, XM_006713924.4:c.7G>T, XM_006713924.4:c.7G>C, XM_006713924.4:c.7G>A, XM_006713924.3:c.7G>T, XM_006713924.3:c.7G>C, XM_006713924.3:c.7G>A, XM_006713924.2:c.7G>T, XM_006713924.2:c.7G>C, XM_006713924.2:c.7G>A, XM_006713924.1:c.7G>T, XM_006713924.1:c.7G>C, XM_006713924.1:c.7G>A, XM_005248019.5:c.7G>T, XM_005248019.5:c.7G>C, XM_005248019.5:c.7G>A, XM_005248019.4:c.7G>T, XM_005248019.4:c.7G>C, XM_005248019.4:c.7G>A, XM_005248019.3:c.7G>T, XM_005248019.3:c.7G>C, XM_005248019.3:c.7G>A, XM_005248019.2:c.7G>T, XM_005248019.2:c.7G>C, XM_005248019.2:c.7G>A, XM_005248019.1:c.7G>T, XM_005248019.1:c.7G>C, XM_005248019.1:c.7G>A, XM_005248020.5:c.7G>T, XM_005248020.5:c.7G>C, XM_005248020.5:c.7G>A, XM_005248020.4:c.7G>T, XM_005248020.4:c.7G>C, XM_005248020.4:c.7G>A, XM_005248020.3:c.7G>T, XM_005248020.3:c.7G>C, XM_005248020.3:c.7G>A, XM_005248020.2:c.7G>T, XM_005248020.2:c.7G>C, XM_005248020.2:c.7G>A, XM_005248020.1:c.7G>T, XM_005248020.1:c.7G>C, XM_005248020.1:c.7G>A, XM_005248022.5:c.7G>T, XM_005248022.5:c.7G>C, XM_005248022.5:c.7G>A, XM_005248022.4:c.7G>T, XM_005248022.4:c.7G>C, XM_005248022.4:c.7G>A, XM_005248022.3:c.7G>T, XM_005248022.3:c.7G>C, XM_005248022.3:c.7G>A, XM_005248022.2:c.7G>T, XM_005248022.2:c.7G>C, XM_005248022.2:c.7G>A, XM_005248022.1:c.7G>T, XM_005248022.1:c.7G>C, XM_005248022.1:c.7G>A, XM_005248023.5:c.7G>T, XM_005248023.5:c.7G>C, XM_005248023.5:c.7G>A, XM_005248023.4:c.7G>T, XM_005248023.4:c.7G>C, XM_005248023.4:c.7G>A, XM_005248023.3:c.7G>T, XM_005248023.3:c.7G>C, XM_005248023.3:c.7G>A, XM_005248023.2:c.7G>T, XM_005248023.2:c.7G>C, XM_005248023.2:c.7G>A, XM_005248023.1:c.7G>T, XM_005248023.1:c.7G>C, XM_005248023.1:c.7G>A, XM_005248024.5:c.7G>T, XM_005248024.5:c.7G>C, XM_005248024.5:c.7G>A, XM_005248024.4:c.7G>T, XM_005248024.4:c.7G>C, XM_005248024.4:c.7G>A, XM_005248024.3:c.7G>T, XM_005248024.3:c.7G>C, XM_005248024.3:c.7G>A, XM_005248024.2:c.7G>T, XM_005248024.2:c.7G>C, XM_005248024.2:c.7G>A, XM_005248024.1:c.7G>T, XM_005248024.1:c.7G>C, XM_005248024.1:c.7G>A, XM_005248027.5:c.7G>T, XM_005248027.5:c.7G>C, XM_005248027.5:c.7G>A, XM_005248027.4:c.7G>T, XM_005248027.4:c.7G>C, XM_005248027.4:c.7G>A, XM_005248027.3:c.7G>T, XM_005248027.3:c.7G>C, XM_005248027.3:c.7G>A, XM_005248027.2:c.7G>T, XM_005248027.2:c.7G>C, XM_005248027.2:c.7G>A, XM_005248027.1:c.7G>T, XM_005248027.1:c.7G>C, XM_005248027.1:c.7G>A, XM_005248029.5:c.7G>T, XM_005248029.5:c.7G>C, XM_005248029.5:c.7G>A, XM_005248029.4:c.7G>T, XM_005248029.4:c.7G>C, XM_005248029.4:c.7G>A, XM_005248029.3:c.7G>T, XM_005248029.3:c.7G>C, XM_005248029.3:c.7G>A, XM_005248029.2:c.7G>T, XM_005248029.2:c.7G>C, XM_005248029.2:c.7G>A, XM_005248029.1:c.7G>T, XM_005248029.1:c.7G>C, XM_005248029.1:c.7G>A, XM_005248030.5:c.7G>T, XM_005248030.5:c.7G>C, XM_005248030.5:c.7G>A, XM_005248030.4:c.7G>T, XM_005248030.4:c.7G>C, XM_005248030.4:c.7G>A, XM_005248030.3:c.7G>T, XM_005248030.3:c.7G>C, XM_005248030.3:c.7G>A, XM_005248030.2:c.7G>T, XM_005248030.2:c.7G>C, XM_005248030.2:c.7G>A, XM_005248030.1:c.7G>T, XM_005248030.1:c.7G>C, XM_005248030.1:c.7G>A, XM_005248031.5:c.7G>T, XM_005248031.5:c.7G>C, XM_005248031.5:c.7G>A, XM_005248031.4:c.7G>T, XM_005248031.4:c.7G>C, XM_005248031.4:c.7G>A, XM_005248031.3:c.7G>T, XM_005248031.3:c.7G>C, XM_005248031.3:c.7G>A, XM_005248031.2:c.7G>T, XM_005248031.2:c.7G>C, XM_005248031.2:c.7G>A, XM_005248031.1:c.7G>T, XM_005248031.1:c.7G>C, XM_005248031.1:c.7G>A, XM_006713925.4:c.7G>T, XM_006713925.4:c.7G>C, XM_006713925.4:c.7G>A, XM_006713925.3:c.7G>T, XM_006713925.3:c.7G>C, XM_006713925.3:c.7G>A, XM_006713925.2:c.7G>T, XM_006713925.2:c.7G>C, XM_006713925.2:c.7G>A, XM_006713925.1:c.7G>T, XM_006713925.1:c.7G>C, XM_006713925.1:c.7G>A, XM_006713927.4:c.7G>T, XM_006713927.4:c.7G>C, XM_006713927.4:c.7G>A, XM_006713927.3:c.7G>T, XM_006713927.3:c.7G>C, XM_006713927.3:c.7G>A, XM_006713927.2:c.7G>T, XM_006713927.2:c.7G>C, XM_006713927.2:c.7G>A, XM_006713927.1:c.7G>T, XM_006713927.1:c.7G>C, XM_006713927.1:c.7G>A, XM_011513586.4:c.7G>T, XM_011513586.4:c.7G>C, XM_011513586.4:c.7G>A, XM_011513586.3:c.7G>T, XM_011513586.3:c.7G>C, XM_011513586.3:c.7G>A, XM_011513586.2:c.7G>T, XM_011513586.2:c.7G>C, XM_011513586.2:c.7G>A, XM_011513586.1:c.7G>T, XM_011513586.1:c.7G>C, XM_011513586.1:c.7G>A, XM_017008715.3:c.7G>T, XM_017008715.3:c.7G>C, XM_017008715.3:c.7G>A, XM_017008715.2:c.7G>T, XM_017008715.2:c.7G>C, XM_017008715.2:c.7G>A, XM_017008715.1:c.7G>T, XM_017008715.1:c.7G>C, XM_017008715.1:c.7G>A, XM_017008720.3:c.7G>T, XM_017008720.3:c.7G>C, XM_017008720.3:c.7G>A, XM_017008720.2:c.7G>T, XM_017008720.2:c.7G>C, XM_017008720.2:c.7G>A, XM_017008720.1:c.7G>T, XM_017008720.1:c.7G>C, XM_017008720.1:c.7G>A, XM_047416297.1:c.7G>T, XM_047416297.1:c.7G>C, XM_047416297.1:c.7G>A, XM_047416298.1:c.7G>T, XM_047416298.1:c.7G>C, XM_047416298.1:c.7G>A, XM_047416300.1:c.7G>T, XM_047416300.1:c.7G>C, XM_047416300.1:c.7G>A, XM_047416302.1:c.7G>T, XM_047416302.1:c.7G>C, XM_047416302.1:c.7G>A, XM_047416303.1:c.7G>T, XM_047416303.1:c.7G>C, XM_047416303.1:c.7G>A, XM_047416305.1:c.7G>T, XM_047416305.1:c.7G>C, XM_047416305.1:c.7G>A, XM_047416306.1:c.7G>T, XM_047416306.1:c.7G>C, XM_047416306.1:c.7G>A, XM_047416307.1:c.7G>T, XM_047416307.1:c.7G>C, XM_047416307.1:c.7G>A, XM_047416309.1:c.7G>T, XM_047416309.1:c.7G>C, XM_047416309.1:c.7G>A, XM_047416310.1:c.7G>T, XM_047416310.1:c.7G>C, XM_047416310.1:c.7G>A, XM_047416311.1:c.7G>T, XM_047416311.1:c.7G>C, XM_047416311.1:c.7G>A, XM_047416312.1:c.7G>T, XM_047416312.1:c.7G>C, XM_047416312.1:c.7G>A, XM_047416313.1:c.7G>T, XM_047416313.1:c.7G>C, XM_047416313.1:c.7G>A, XM_047416316.1:c.7G>T, XM_047416316.1:c.7G>C, XM_047416316.1:c.7G>A, XM_047416314.1:c.7G>T, XM_047416314.1:c.7G>C, XM_047416314.1:c.7G>A, XM_047416315.1:c.7G>T, XM_047416315.1:c.7G>C, XM_047416315.1:c.7G>A, XP_005248071.1:p.Val3Leu, XP_005248071.1:p.Val3Leu, XP_005248071.1:p.Val3Met, XP_005248078.1:p.Val3Leu, XP_005248078.1:p.Val3Leu, XP_005248078.1:p.Val3Met, XP_005248085.1:p.Val3Leu, XP_005248085.1:p.Val3Leu, XP_005248085.1:p.Val3Met, XP_005248074.1:p.Val3Leu, XP_005248074.1:p.Val3Leu, XP_005248074.1:p.Val3Met, XP_006713986.1:p.Val3Leu, XP_006713986.1:p.Val3Leu, XP_006713986.1:p.Val3Met, XP_006713987.1:p.Val3Leu, XP_006713987.1:p.Val3Leu, XP_006713987.1:p.Val3Met, XP_005248076.1:p.Val3Leu, XP_005248076.1:p.Val3Leu, XP_005248076.1:p.Val3Met, XP_005248077.1:p.Val3Leu, XP_005248077.1:p.Val3Leu, XP_005248077.1:p.Val3Met, XP_005248079.1:p.Val3Leu, XP_005248079.1:p.Val3Leu, XP_005248079.1:p.Val3Met, XP_005248080.1:p.Val3Leu, XP_005248080.1:p.Val3Leu, XP_005248080.1:p.Val3Met, XP_005248081.1:p.Val3Leu, XP_005248081.1:p.Val3Leu, XP_005248081.1:p.Val3Met, XP_005248084.1:p.Val3Leu, XP_005248084.1:p.Val3Leu, XP_005248084.1:p.Val3Met, XP_005248086.1:p.Val3Leu, XP_005248086.1:p.Val3Leu, XP_005248086.1:p.Val3Met, XP_005248087.1:p.Val3Leu, XP_005248087.1:p.Val3Leu, XP_005248087.1:p.Val3Met, XP_005248088.1:p.Val3Leu, XP_005248088.1:p.Val3Leu, XP_005248088.1:p.Val3Met, XP_006713988.1:p.Val3Leu, XP_006713988.1:p.Val3Leu, XP_006713988.1:p.Val3Met, XP_006713990.1:p.Val3Leu, XP_006713990.1:p.Val3Leu, XP_006713990.1:p.Val3Met, XP_011511888.1:p.Val3Leu, XP_011511888.1:p.Val3Leu, XP_011511888.1:p.Val3Met, XP_016864204.1:p.Val3Leu, XP_016864204.1:p.Val3Leu, XP_016864204.1:p.Val3Met, XP_016864209.1:p.Val3Leu, XP_016864209.1:p.Val3Leu, XP_016864209.1:p.Val3Met, XP_047272253.1:p.Val3Leu, XP_047272253.1:p.Val3Leu, XP_047272253.1:p.Val3Met, XP_047272254.1:p.Val3Leu, XP_047272254.1:p.Val3Leu, XP_047272254.1:p.Val3Met, XP_047272256.1:p.Val3Leu, XP_047272256.1:p.Val3Leu, XP_047272256.1:p.Val3Met, XP_047272258.1:p.Val3Leu, XP_047272258.1:p.Val3Leu, XP_047272258.1:p.Val3Met, XP_047272259.1:p.Val3Leu, XP_047272259.1:p.Val3Leu, XP_047272259.1:p.Val3Met, XP_047272261.1:p.Val3Leu, XP_047272261.1:p.Val3Leu, XP_047272261.1:p.Val3Met, XP_047272262.1:p.Val3Leu, XP_047272262.1:p.Val3Leu, XP_047272262.1:p.Val3Met, XP_047272263.1:p.Val3Leu, XP_047272263.1:p.Val3Leu, XP_047272263.1:p.Val3Met, XP_047272265.1:p.Val3Leu, XP_047272265.1:p.Val3Leu, XP_047272265.1:p.Val3Met, XP_047272266.1:p.Val3Leu, XP_047272266.1:p.Val3Leu, XP_047272266.1:p.Val3Met, XP_047272267.1:p.Val3Leu, XP_047272267.1:p.Val3Leu, XP_047272267.1:p.Val3Met, XP_047272268.1:p.Val3Leu, XP_047272268.1:p.Val3Leu, XP_047272268.1:p.Val3Met, XP_047272269.1:p.Val3Leu, XP_047272269.1:p.Val3Leu, XP_047272269.1:p.Val3Met, XP_047272272.1:p.Val3Leu, XP_047272272.1:p.Val3Leu, XP_047272272.1:p.Val3Met, XP_047272270.1:p.Val3Leu, XP_047272270.1:p.Val3Leu, XP_047272270.1:p.Val3Met, XP_047272271.1:p.Val3Leu, XP_047272271.1:p.Val3Leu, XP_047272271.1:p.Val3Met

Select item 14813543856.

rs1481354385 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:8060972 (GRCh38)
4:8062699 (GRCh37)
Canonical SPDI:: NC_000004.12:8060971:A:G
Gene:: ABLIM2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000004.12:g.8060972A>G, NC_000004.11:g.8062699A>G, XM_005248014.6:c.773T>C, XM_005248014.5:c.773T>C, XM_005248014.4:c.773T>C, XM_005248014.3:c.773T>C, XM_005248014.2:c.773T>C, XM_005248014.1:c.773T>C, XM_005248021.6:c.773T>C, XM_005248021.5:c.773T>C, XM_005248021.4:c.773T>C, XM_005248021.3:c.773T>C, XM_005248021.2:c.773T>C, XM_005248021.1:c.773T>C, XM_005248028.6:c.773T>C, XM_005248028.5:c.773T>C, XM_005248028.4:c.773T>C, XM_005248028.3:c.773T>C, XM_005248028.2:c.773T>C, XM_005248028.1:c.773T>C, XM_005248017.5:c.773T>C, XM_005248017.4:c.773T>C, XM_005248017.3:c.773T>C, XM_005248017.2:c.773T>C, XM_005248017.1:c.773T>C, XM_006713923.5:c.773T>C, XM_006713923.4:c.773T>C, XM_006713923.3:c.773T>C, XM_006713923.2:c.773T>C, XM_006713923.1:c.773T>C, XM_006713924.5:c.773T>C, XM_006713924.4:c.773T>C, XM_006713924.3:c.773T>C, XM_006713924.2:c.773T>C, XM_006713924.1:c.773T>C, XM_005248019.5:c.773T>C, XM_005248019.4:c.773T>C, XM_005248019.3:c.773T>C, XM_005248019.2:c.773T>C, XM_005248019.1:c.773T>C, XM_005248020.5:c.773T>C, XM_005248020.4:c.773T>C, XM_005248020.3:c.773T>C, XM_005248020.2:c.773T>C, XM_005248020.1:c.773T>C, XM_005248022.5:c.773T>C, XM_005248022.4:c.773T>C, XM_005248022.3:c.773T>C, XM_005248022.2:c.773T>C, XM_005248022.1:c.773T>C, XM_005248023.5:c.773T>C, XM_005248023.4:c.773T>C, XM_005248023.3:c.773T>C, XM_005248023.2:c.773T>C, XM_005248023.1:c.773T>C, XM_005248024.5:c.773T>C, XM_005248024.4:c.773T>C, XM_005248024.3:c.773T>C, XM_005248024.2:c.773T>C, XM_005248024.1:c.773T>C, XM_005248027.5:c.773T>C, XM_005248027.4:c.773T>C, XM_005248027.3:c.773T>C, XM_005248027.2:c.773T>C, XM_005248027.1:c.773T>C, NM_032432.5:c.758T>C, NM_032432.4:c.758T>C, XM_005248029.5:c.773T>C, XM_005248029.4:c.773T>C, XM_005248029.3:c.773T>C, XM_005248029.2:c.773T>C, XM_005248029.1:c.773T>C, XM_005248030.5:c.773T>C, XM_005248030.4:c.773T>C, XM_005248030.3:c.773T>C, XM_005248030.2:c.773T>C, XM_005248030.1:c.773T>C, XM_005248031.5:c.773T>C, XM_005248031.4:c.773T>C, XM_005248031.3:c.773T>C, XM_005248031.2:c.773T>C, XM_005248031.1:c.773T>C, XM_006713925.4:c.773T>C, XM_006713925.3:c.773T>C, XM_006713925.2:c.773T>C, XM_006713925.1:c.773T>C, XM_006713927.4:c.773T>C, XM_006713927.3:c.773T>C, XM_006713927.2:c.773T>C, XM_006713927.1:c.773T>C, XM_011513586.4:c.773T>C, XM_011513586.3:c.773T>C, XM_011513586.2:c.773T>C, XM_011513586.1:c.773T>C, XM_017008715.3:c.773T>C, XM_017008715.2:c.773T>C, XM_017008715.1:c.773T>C, XM_017008720.3:c.773T>C, XM_017008720.2:c.773T>C, XM_017008720.1:c.773T>C, NM_001130083.2:c.758T>C, NM_001130083.1:c.758T>C, NM_001130084.2:c.758T>C, NM_001130084.1:c.758T>C, NM_001130085.2:c.758T>C, NM_001130085.1:c.758T>C, NM_001130086.2:c.758T>C, NM_001130086.1:c.758T>C, NM_001130087.2:c.758T>C, NM_001130087.1:c.758T>C, NM_001286688.2:c.29T>C, NM_001286688.1:c.29T>C, XM_017008723.2:c.758T>C, XM_017008723.1:c.758T>C, NM_001130088.2:c.758T>C, NM_001130088.1:c.758T>C, XM_017008725.2:c.758T>C, XM_017008725.1:c.758T>C, XM_047416299.1:c.758T>C, XM_047416297.1:c.773T>C, XM_047416298.1:c.773T>C, XM_047416301.1:c.758T>C, XM_047416300.1:c.773T>C, XM_047416302.1:c.773T>C, XM_047416308.1:c.758T>C, XM_047416303.1:c.773T>C, XM_047416305.1:c.773T>C, XM_047416306.1:c.773T>C, XM_047416307.1:c.773T>C, XM_047416309.1:c.773T>C, XM_047416310.1:c.773T>C, XM_047416311.1:c.773T>C, XM_047416312.1:c.773T>C, XM_047416313.1:c.773T>C, XM_047416316.1:c.773T>C, XM_047416317.1:c.758T>C, XM_047416318.1:c.758T>C, XM_047416314.1:c.773T>C, XM_047416315.1:c.773T>C, XP_005248071.1:p.Leu258Pro, XP_005248078.1:p.Leu258Pro, XP_005248085.1:p.Leu258Pro, XP_005248074.1:p.Leu258Pro, XP_006713986.1:p.Leu258Pro, XP_006713987.1:p.Leu258Pro, XP_005248076.1:p.Leu258Pro, XP_005248077.1:p.Leu258Pro, XP_005248079.1:p.Leu258Pro, XP_005248080.1:p.Leu258Pro, XP_005248081.1:p.Leu258Pro, XP_005248084.1:p.Leu258Pro, NP_115808.3:p.Leu253Pro, XP_005248086.1:p.Leu258Pro, XP_005248087.1:p.Leu258Pro, XP_005248088.1:p.Leu258Pro, XP_006713988.1:p.Leu258Pro, XP_006713990.1:p.Leu258Pro, XP_011511888.1:p.Leu258Pro, XP_016864204.1:p.Leu258Pro, XP_016864209.1:p.Leu258Pro, NP_001123555.1:p.Leu253Pro, NP_001123556.1:p.Leu253Pro, NP_001123557.1:p.Leu253Pro, NP_001123558.1:p.Leu253Pro, NP_001123559.1:p.Leu253Pro, NP_001273617.1:p.Leu10Pro, XP_016864212.1:p.Leu253Pro, NP_001123560.1:p.Leu253Pro, XP_016864214.1:p.Leu253Pro, XP_047272255.1:p.Leu253Pro, XP_047272253.1:p.Leu258Pro, XP_047272254.1:p.Leu258Pro, XP_047272257.1:p.Leu253Pro, XP_047272256.1:p.Leu258Pro, XP_047272258.1:p.Leu258Pro, XP_047272264.1:p.Leu253Pro, XP_047272259.1:p.Leu258Pro, XP_047272261.1:p.Leu258Pro, XP_047272262.1:p.Leu258Pro, XP_047272263.1:p.Leu258Pro, XP_047272265.1:p.Leu258Pro, XP_047272266.1:p.Leu258Pro, XP_047272267.1:p.Leu258Pro, XP_047272268.1:p.Leu258Pro, XP_047272269.1:p.Leu258Pro, XP_047272272.1:p.Leu258Pro, XP_047272273.1:p.Leu253Pro, XP_047272274.1:p.Leu253Pro, XP_047272270.1:p.Leu258Pro, XP_047272271.1:p.Leu258Pro

Select item 14810567217.

rs1481056721 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:8009071 (GRCh38)
4:8010798 (GRCh37)
Canonical SPDI:: NC_000004.12:8009070:G:A
Gene:: ABLIM2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.8009071G>A, NC_000004.11:g.8010798G>A, XM_005248014.6:c.1623C>T, XM_005248014.5:c.1623C>T, XM_005248014.4:c.1623C>T, XM_005248014.3:c.1623C>T, XM_005248014.2:c.1623C>T, XM_005248014.1:c.1623C>T, XM_005248021.6:c.1503C>T, XM_005248021.5:c.1503C>T, XM_005248021.4:c.1503C>T, XM_005248021.3:c.1503C>T, XM_005248021.2:c.1503C>T, XM_005248021.1:c.1503C>T, XM_005248028.6:c.1248C>T, XM_005248028.5:c.1248C>T, XM_005248028.4:c.1248C>T, XM_005248028.3:c.1248C>T, XM_005248028.2:c.1248C>T, XM_005248028.1:c.1248C>T, XM_005248017.5:c.1623C>T, XM_005248017.4:c.1623C>T, XM_005248017.3:c.1623C>T, XM_005248017.2:c.1623C>T, XM_005248017.1:c.1623C>T, XM_006713923.5:c.1623C>T, XM_006713923.4:c.1623C>T, XM_006713923.3:c.1623C>T, XM_006713923.2:c.1623C>T, XM_006713923.1:c.1623C>T, XM_006713924.5:c.1503C>T, XM_006713924.4:c.1503C>T, XM_006713924.3:c.1503C>T, XM_006713924.2:c.1503C>T, XM_006713924.1:c.1503C>T, XM_005248019.5:c.1470C>T, XM_005248019.4:c.1470C>T, XM_005248019.3:c.1470C>T, XM_005248019.2:c.1470C>T, XM_005248019.1:c.1470C>T, XM_005248020.5:c.1470C>T, XM_005248020.4:c.1470C>T, XM_005248020.3:c.1470C>T, XM_005248020.2:c.1470C>T, XM_005248020.1:c.1470C>T, XM_005248022.5:c.1371C>T, XM_005248022.4:c.1371C>T, XM_005248022.3:c.1371C>T, XM_005248022.2:c.1371C>T, XM_005248022.1:c.1371C>T, XM_005248023.5:c.1470C>T, XM_005248023.4:c.1470C>T, XM_005248023.3:c.1470C>T, XM_005248023.2:c.1470C>T, XM_005248023.1:c.1470C>T, XM_005248024.5:c.1371C>T, XM_005248024.4:c.1371C>T, XM_005248024.3:c.1371C>T, XM_005248024.2:c.1371C>T, XM_005248024.1:c.1371C>T, XM_005248027.5:c.1215C>T, XM_005248027.4:c.1215C>T, XM_005248027.3:c.1215C>T, XM_005248027.2:c.1215C>T, XM_005248027.1:c.1215C>T, NM_032432.5:c.1200C>T, NM_032432.4:c.1200C>T, XM_005248029.5:c.1215C>T, XM_005248029.4:c.1215C>T, XM_005248029.3:c.1215C>T, XM_005248029.2:c.1215C>T, XM_005248029.1:c.1215C>T, XM_005248030.5:c.1215C>T, XM_005248030.4:c.1215C>T, XM_005248030.3:c.1215C>T, XM_005248030.2:c.1215C>T, XM_005248030.1:c.1215C>T, XM_005248031.5:c.1248C>T, XM_005248031.4:c.1248C>T, XM_005248031.3:c.1248C>T, XM_005248031.2:c.1248C>T, XM_005248031.1:c.1248C>T, XM_006713925.4:c.1503C>T, XM_006713925.3:c.1503C>T, XM_006713925.2:c.1503C>T, XM_006713925.1:c.1503C>T, XM_006713927.4:c.1248C>T, XM_006713927.3:c.1248C>T, XM_006713927.2:c.1248C>T, XM_006713927.1:c.1248C>T, XM_011513586.4:c.1623C>T, XM_011513586.3:c.1623C>T, XM_011513586.2:c.1623C>T, XM_011513586.1:c.1623C>T, XM_017008715.3:c.1416C>T, XM_017008715.2:c.1416C>T, XM_017008715.1:c.1416C>T, XM_017008720.3:c.1248C>T, XM_017008720.2:c.1248C>T, XM_017008720.1:c.1248C>T, NM_001130083.2:c.1455C>T, NM_001130083.1:c.1455C>T, NM_001130084.2:c.1356C>T, NM_001130084.1:c.1356C>T, NM_001130085.2:c.1356C>T, NM_001130085.1:c.1356C>T, NM_001130086.2:c.1200C>T, NM_001130086.1:c.1200C>T, NM_001130087.2:c.1233C>T, NM_001130087.1:c.1233C>T, NM_001286688.2:c.558C>T, NM_001286688.1:c.558C>T, XM_017008723.2:c.1488C>T, XM_017008723.1:c.1488C>T, NM_001130088.2:c.1233C>T, NM_001130088.1:c.1233C>T, XM_017008725.2:c.1200C>T, XM_017008725.1:c.1200C>T, XM_047416299.1:c.1608C>T, XM_047416297.1:c.1623C>T, XM_047416298.1:c.1623C>T, XM_047416301.1:c.1575C>T, XM_047416300.1:c.1590C>T, XM_047416302.1:c.1524C>T, XM_047416308.1:c.1476C>T, XM_047416303.1:c.1503C>T, XM_047416305.1:c.1503C>T, XM_047416306.1:c.1491C>T, XM_047416307.1:c.1491C>T, XM_047416309.1:c.1470C>T, XM_047416310.1:c.1470C>T, XM_047416311.1:c.1422C>T, XM_047416312.1:c.1404C>T, XM_047416313.1:c.1404C>T, XM_047416316.1:c.1302C>T, XM_047416317.1:c.1401C>T, XM_047416318.1:c.1200C>T, XM_047416314.1:c.1623C>T, XM_047416315.1:c.1623C>T

Select item 14787969318.

rs1478796931 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:8097128 (GRCh38)
4:8098855 (GRCh37)
Canonical SPDI:: NC_000004.12:8097127:G:A
Gene:: ABLIM2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
HGVS:: NC_000004.12:g.8097128G>A, NC_000004.11:g.8098855G>A, XM_005248014.6:c.324C>T, XM_005248014.5:c.324C>T, XM_005248014.4:c.324C>T, XM_005248014.3:c.324C>T, XM_005248014.2:c.324C>T, XM_005248014.1:c.324C>T, XM_005248021.6:c.324C>T, XM_005248021.5:c.324C>T, XM_005248021.4:c.324C>T, XM_005248021.3:c.324C>T, XM_005248021.2:c.324C>T, XM_005248021.1:c.324C>T, XM_005248028.6:c.324C>T, XM_005248028.5:c.324C>T, XM_005248028.4:c.324C>T, XM_005248028.3:c.324C>T, XM_005248028.2:c.324C>T, XM_005248028.1:c.324C>T, XM_005248017.5:c.324C>T, XM_005248017.4:c.324C>T, XM_005248017.3:c.324C>T, XM_005248017.2:c.324C>T, XM_005248017.1:c.324C>T, XM_006713923.5:c.324C>T, XM_006713923.4:c.324C>T, XM_006713923.3:c.324C>T, XM_006713923.2:c.324C>T, XM_006713923.1:c.324C>T, XM_006713924.5:c.324C>T, XM_006713924.4:c.324C>T, XM_006713924.3:c.324C>T, XM_006713924.2:c.324C>T, XM_006713924.1:c.324C>T, XM_005248019.5:c.324C>T, XM_005248019.4:c.324C>T, XM_005248019.3:c.324C>T, XM_005248019.2:c.324C>T, XM_005248019.1:c.324C>T, XM_005248020.5:c.324C>T, XM_005248020.4:c.324C>T, XM_005248020.3:c.324C>T, XM_005248020.2:c.324C>T, XM_005248020.1:c.324C>T, XM_005248022.5:c.324C>T, XM_005248022.4:c.324C>T, XM_005248022.3:c.324C>T, XM_005248022.2:c.324C>T, XM_005248022.1:c.324C>T, XM_005248023.5:c.324C>T, XM_005248023.4:c.324C>T, XM_005248023.3:c.324C>T, XM_005248023.2:c.324C>T, XM_005248023.1:c.324C>T, XM_005248024.5:c.324C>T, XM_005248024.4:c.324C>T, XM_005248024.3:c.324C>T, XM_005248024.2:c.324C>T, XM_005248024.1:c.324C>T, XM_005248027.5:c.324C>T, XM_005248027.4:c.324C>T, XM_005248027.3:c.324C>T, XM_005248027.2:c.324C>T, XM_005248027.1:c.324C>T, NM_032432.5:c.309C>T, NM_032432.4:c.309C>T, XM_005248029.5:c.324C>T, XM_005248029.4:c.324C>T, XM_005248029.3:c.324C>T, XM_005248029.2:c.324C>T, XM_005248029.1:c.324C>T, XM_005248030.5:c.324C>T, XM_005248030.4:c.324C>T, XM_005248030.3:c.324C>T, XM_005248030.2:c.324C>T, XM_005248030.1:c.324C>T, XM_005248031.5:c.324C>T, XM_005248031.4:c.324C>T, XM_005248031.3:c.324C>T, XM_005248031.2:c.324C>T, XM_005248031.1:c.324C>T, XM_006713925.4:c.324C>T, XM_006713925.3:c.324C>T, XM_006713925.2:c.324C>T, XM_006713925.1:c.324C>T, XM_006713927.4:c.324C>T, XM_006713927.3:c.324C>T, XM_006713927.2:c.324C>T, XM_006713927.1:c.324C>T, XM_011513586.4:c.324C>T, XM_011513586.3:c.324C>T, XM_011513586.2:c.324C>T, XM_011513586.1:c.324C>T, XM_017008715.3:c.324C>T, XM_017008715.2:c.324C>T, XM_017008715.1:c.324C>T, XM_017008720.3:c.324C>T, XM_017008720.2:c.324C>T, XM_017008720.1:c.324C>T, NM_001130083.2:c.309C>T, NM_001130083.1:c.309C>T, NM_001130084.2:c.309C>T, NM_001130084.1:c.309C>T, NM_001130085.2:c.309C>T, NM_001130085.1:c.309C>T, NM_001130086.2:c.309C>T, NM_001130086.1:c.309C>T, NM_001130087.2:c.309C>T, NM_001130087.1:c.309C>T, XM_017008723.2:c.309C>T, XM_017008723.1:c.309C>T, NM_001130088.2:c.309C>T, NM_001130088.1:c.309C>T, XM_017008725.2:c.309C>T, XM_017008725.1:c.309C>T, XM_047416299.1:c.309C>T, XM_047416297.1:c.324C>T, XM_047416298.1:c.324C>T, XM_047416301.1:c.309C>T, XM_047416300.1:c.324C>T, XM_047416302.1:c.324C>T, XM_047416308.1:c.309C>T, XM_047416303.1:c.324C>T, XM_047416305.1:c.324C>T, XM_047416306.1:c.324C>T, XM_047416307.1:c.324C>T, XM_047416309.1:c.324C>T, XM_047416310.1:c.324C>T, XM_047416311.1:c.324C>T, XM_047416312.1:c.324C>T, XM_047416313.1:c.324C>T, XM_047416316.1:c.324C>T, XM_047416317.1:c.309C>T, XM_047416318.1:c.309C>T, XM_047416314.1:c.324C>T, XM_047416315.1:c.324C>T

Select item 14763115529.

rs1476311552 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:8036234 (GRCh38)
4:8037961 (GRCh37)
Canonical SPDI:: NC_000004.12:8036233:G:T
Gene:: ABLIM2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.8036234G>T, NC_000004.11:g.8037961G>T, XM_005248014.6:c.977C>A, XM_005248014.5:c.977C>A, XM_005248014.4:c.977C>A, XM_005248014.3:c.977C>A, XM_005248014.2:c.977C>A, XM_005248014.1:c.977C>A, XM_005248021.6:c.977C>A, XM_005248021.5:c.977C>A, XM_005248021.4:c.977C>A, XM_005248021.3:c.977C>A, XM_005248021.2:c.977C>A, XM_005248021.1:c.977C>A, XM_005248028.6:c.977C>A, XM_005248028.5:c.977C>A, XM_005248028.4:c.977C>A, XM_005248028.3:c.977C>A, XM_005248028.2:c.977C>A, XM_005248028.1:c.977C>A, XM_005248017.5:c.977C>A, XM_005248017.4:c.977C>A, XM_005248017.3:c.977C>A, XM_005248017.2:c.977C>A, XM_005248017.1:c.977C>A, XM_006713923.5:c.977C>A, XM_006713923.4:c.977C>A, XM_006713923.3:c.977C>A, XM_006713923.2:c.977C>A, XM_006713923.1:c.977C>A, XM_006713924.5:c.977C>A, XM_006713924.4:c.977C>A, XM_006713924.3:c.977C>A, XM_006713924.2:c.977C>A, XM_006713924.1:c.977C>A, XM_005248019.5:c.977C>A, XM_005248019.4:c.977C>A, XM_005248019.3:c.977C>A, XM_005248019.2:c.977C>A, XM_005248019.1:c.977C>A, XM_005248020.5:c.977C>A, XM_005248020.4:c.977C>A, XM_005248020.3:c.977C>A, XM_005248020.2:c.977C>A, XM_005248020.1:c.977C>A, XM_005248022.5:c.977C>A, XM_005248022.4:c.977C>A, XM_005248022.3:c.977C>A, XM_005248022.2:c.977C>A, XM_005248022.1:c.977C>A, XM_005248023.5:c.977C>A, XM_005248023.4:c.977C>A, XM_005248023.3:c.977C>A, XM_005248023.2:c.977C>A, XM_005248023.1:c.977C>A, XM_005248024.5:c.977C>A, XM_005248024.4:c.977C>A, XM_005248024.3:c.977C>A, XM_005248024.2:c.977C>A, XM_005248024.1:c.977C>A, XM_005248027.5:c.977C>A, XM_005248027.4:c.977C>A, XM_005248027.3:c.977C>A, XM_005248027.2:c.977C>A, XM_005248027.1:c.977C>A, NM_032432.5:c.962C>A, NM_032432.4:c.962C>A, XM_005248029.5:c.977C>A, XM_005248029.4:c.977C>A, XM_005248029.3:c.977C>A, XM_005248029.2:c.977C>A, XM_005248029.1:c.977C>A, XM_005248030.5:c.977C>A, XM_005248030.4:c.977C>A, XM_005248030.3:c.977C>A, XM_005248030.2:c.977C>A, XM_005248030.1:c.977C>A, XM_005248031.5:c.977C>A, XM_005248031.4:c.977C>A, XM_005248031.3:c.977C>A, XM_005248031.2:c.977C>A, XM_005248031.1:c.977C>A, XM_006713925.4:c.977C>A, XM_006713925.3:c.977C>A, XM_006713925.2:c.977C>A, XM_006713925.1:c.977C>A, XM_006713927.4:c.977C>A, XM_006713927.3:c.977C>A, XM_006713927.2:c.977C>A, XM_006713927.1:c.977C>A, XM_011513586.4:c.977C>A, XM_011513586.3:c.977C>A, XM_011513586.2:c.977C>A, XM_011513586.1:c.977C>A, XM_017008715.3:c.977C>A, XM_017008715.2:c.977C>A, XM_017008715.1:c.977C>A, XM_017008720.3:c.977C>A, XM_017008720.2:c.977C>A, XM_017008720.1:c.977C>A, NM_001130083.2:c.962C>A, NM_001130083.1:c.962C>A, NM_001130084.2:c.962C>A, NM_001130084.1:c.962C>A, NM_001130085.2:c.962C>A, NM_001130085.1:c.962C>A, NM_001130086.2:c.962C>A, NM_001130086.1:c.962C>A, NM_001130087.2:c.962C>A, NM_001130087.1:c.962C>A, NM_001286688.2:c.233C>A, NM_001286688.1:c.233C>A, XM_017008723.2:c.962C>A, XM_017008723.1:c.962C>A, NM_001130088.2:c.962C>A, NM_001130088.1:c.962C>A, XM_017008725.2:c.962C>A, XM_017008725.1:c.962C>A, XM_047416299.1:c.962C>A, XM_047416297.1:c.977C>A, XM_047416298.1:c.977C>A, XM_047416301.1:c.962C>A, XM_047416300.1:c.977C>A, XM_047416302.1:c.977C>A, XM_047416308.1:c.962C>A, XM_047416303.1:c.977C>A, XM_047416305.1:c.977C>A, XM_047416306.1:c.977C>A, XM_047416307.1:c.977C>A, XM_047416309.1:c.977C>A, XM_047416310.1:c.977C>A, XM_047416311.1:c.977C>A, XM_047416312.1:c.977C>A, XM_047416313.1:c.977C>A, XM_047416316.1:c.977C>A, XM_047416317.1:c.962C>A, XM_047416318.1:c.962C>A, XM_047416314.1:c.977C>A, XM_047416315.1:c.977C>A, XP_005248071.1:p.Ala326Asp, XP_005248078.1:p.Ala326Asp, XP_005248085.1:p.Ala326Asp, XP_005248074.1:p.Ala326Asp, XP_006713986.1:p.Ala326Asp, XP_006713987.1:p.Ala326Asp, XP_005248076.1:p.Ala326Asp, XP_005248077.1:p.Ala326Asp, XP_005248079.1:p.Ala326Asp, XP_005248080.1:p.Ala326Asp, XP_005248081.1:p.Ala326Asp, XP_005248084.1:p.Ala326Asp, NP_115808.3:p.Ala321Asp, XP_005248086.1:p.Ala326Asp, XP_005248087.1:p.Ala326Asp, XP_005248088.1:p.Ala326Asp, XP_006713988.1:p.Ala326Asp, XP_006713990.1:p.Ala326Asp, XP_011511888.1:p.Ala326Asp, XP_016864204.1:p.Ala326Asp, XP_016864209.1:p.Ala326Asp, NP_001123555.1:p.Ala321Asp, NP_001123556.1:p.Ala321Asp, NP_001123557.1:p.Ala321Asp, NP_001123558.1:p.Ala321Asp, NP_001123559.1:p.Ala321Asp, NP_001273617.1:p.Ala78Asp, XP_016864212.1:p.Ala321Asp, NP_001123560.1:p.Ala321Asp, XP_016864214.1:p.Ala321Asp, XP_047272255.1:p.Ala321Asp, XP_047272253.1:p.Ala326Asp, XP_047272254.1:p.Ala326Asp, XP_047272257.1:p.Ala321Asp, XP_047272256.1:p.Ala326Asp, XP_047272258.1:p.Ala326Asp, XP_047272264.1:p.Ala321Asp, XP_047272259.1:p.Ala326Asp, XP_047272261.1:p.Ala326Asp, XP_047272262.1:p.Ala326Asp, XP_047272263.1:p.Ala326Asp, XP_047272265.1:p.Ala326Asp, XP_047272266.1:p.Ala326Asp, XP_047272267.1:p.Ala326Asp, XP_047272268.1:p.Ala326Asp, XP_047272269.1:p.Ala326Asp, XP_047272272.1:p.Ala326Asp, XP_047272273.1:p.Ala321Asp, XP_047272274.1:p.Ala321Asp, XP_047272270.1:p.Ala326Asp, XP_047272271.1:p.Ala326Asp

Select item 147523883410.

rs1475238834 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:8036252 (GRCh38)
4:8037979 (GRCh37)
Canonical SPDI:: NC_000004.12:8036251:G:C
Gene:: ABLIM2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.8036252G>C, NC_000004.11:g.8037979G>C, XM_005248014.6:c.959C>G, XM_005248014.5:c.959C>G, XM_005248014.4:c.959C>G, XM_005248014.3:c.959C>G, XM_005248014.2:c.959C>G, XM_005248014.1:c.959C>G, XM_005248021.6:c.959C>G, XM_005248021.5:c.959C>G, XM_005248021.4:c.959C>G, XM_005248021.3:c.959C>G, XM_005248021.2:c.959C>G, XM_005248021.1:c.959C>G, XM_005248028.6:c.959C>G, XM_005248028.5:c.959C>G, XM_005248028.4:c.959C>G, XM_005248028.3:c.959C>G, XM_005248028.2:c.959C>G, XM_005248028.1:c.959C>G, XM_005248017.5:c.959C>G, XM_005248017.4:c.959C>G, XM_005248017.3:c.959C>G, XM_005248017.2:c.959C>G, XM_005248017.1:c.959C>G, XM_006713923.5:c.959C>G, XM_006713923.4:c.959C>G, XM_006713923.3:c.959C>G, XM_006713923.2:c.959C>G, XM_006713923.1:c.959C>G, XM_006713924.5:c.959C>G, XM_006713924.4:c.959C>G, XM_006713924.3:c.959C>G, XM_006713924.2:c.959C>G, XM_006713924.1:c.959C>G, XM_005248019.5:c.959C>G, XM_005248019.4:c.959C>G, XM_005248019.3:c.959C>G, XM_005248019.2:c.959C>G, XM_005248019.1:c.959C>G, XM_005248020.5:c.959C>G, XM_005248020.4:c.959C>G, XM_005248020.3:c.959C>G, XM_005248020.2:c.959C>G, XM_005248020.1:c.959C>G, XM_005248022.5:c.959C>G, XM_005248022.4:c.959C>G, XM_005248022.3:c.959C>G, XM_005248022.2:c.959C>G, XM_005248022.1:c.959C>G, XM_005248023.5:c.959C>G, XM_005248023.4:c.959C>G, XM_005248023.3:c.959C>G, XM_005248023.2:c.959C>G, XM_005248023.1:c.959C>G, XM_005248024.5:c.959C>G, XM_005248024.4:c.959C>G, XM_005248024.3:c.959C>G, XM_005248024.2:c.959C>G, XM_005248024.1:c.959C>G, XM_005248027.5:c.959C>G, XM_005248027.4:c.959C>G, XM_005248027.3:c.959C>G, XM_005248027.2:c.959C>G, XM_005248027.1:c.959C>G, NM_032432.5:c.944C>G, NM_032432.4:c.944C>G, XM_005248029.5:c.959C>G, XM_005248029.4:c.959C>G, XM_005248029.3:c.959C>G, XM_005248029.2:c.959C>G, XM_005248029.1:c.959C>G, XM_005248030.5:c.959C>G, XM_005248030.4:c.959C>G, XM_005248030.3:c.959C>G, XM_005248030.2:c.959C>G, XM_005248030.1:c.959C>G, XM_005248031.5:c.959C>G, XM_005248031.4:c.959C>G, XM_005248031.3:c.959C>G, XM_005248031.2:c.959C>G, XM_005248031.1:c.959C>G, XM_006713925.4:c.959C>G, XM_006713925.3:c.959C>G, XM_006713925.2:c.959C>G, XM_006713925.1:c.959C>G, XM_006713927.4:c.959C>G, XM_006713927.3:c.959C>G, XM_006713927.2:c.959C>G, XM_006713927.1:c.959C>G, XM_011513586.4:c.959C>G, XM_011513586.3:c.959C>G, XM_011513586.2:c.959C>G, XM_011513586.1:c.959C>G, XM_017008715.3:c.959C>G, XM_017008715.2:c.959C>G, XM_017008715.1:c.959C>G, XM_017008720.3:c.959C>G, XM_017008720.2:c.959C>G, XM_017008720.1:c.959C>G, NM_001130083.2:c.944C>G, NM_001130083.1:c.944C>G, NM_001130084.2:c.944C>G, NM_001130084.1:c.944C>G, NM_001130085.2:c.944C>G, NM_001130085.1:c.944C>G, NM_001130086.2:c.944C>G, NM_001130086.1:c.944C>G, NM_001130087.2:c.944C>G, NM_001130087.1:c.944C>G, NM_001286688.2:c.215C>G, NM_001286688.1:c.215C>G, XM_017008723.2:c.944C>G, XM_017008723.1:c.944C>G, NM_001130088.2:c.944C>G, NM_001130088.1:c.944C>G, XM_017008725.2:c.944C>G, XM_017008725.1:c.944C>G, XM_047416299.1:c.944C>G, XM_047416297.1:c.959C>G, XM_047416298.1:c.959C>G, XM_047416301.1:c.944C>G, XM_047416300.1:c.959C>G, XM_047416302.1:c.959C>G, XM_047416308.1:c.944C>G, XM_047416303.1:c.959C>G, XM_047416305.1:c.959C>G, XM_047416306.1:c.959C>G, XM_047416307.1:c.959C>G, XM_047416309.1:c.959C>G, XM_047416310.1:c.959C>G, XM_047416311.1:c.959C>G, XM_047416312.1:c.959C>G, XM_047416313.1:c.959C>G, XM_047416316.1:c.959C>G, XM_047416317.1:c.944C>G, XM_047416318.1:c.944C>G, XM_047416314.1:c.959C>G, XM_047416315.1:c.959C>G, XP_005248071.1:p.Ala320Gly, XP_005248078.1:p.Ala320Gly, XP_005248085.1:p.Ala320Gly, XP_005248074.1:p.Ala320Gly, XP_006713986.1:p.Ala320Gly, XP_006713987.1:p.Ala320Gly, XP_005248076.1:p.Ala320Gly, XP_005248077.1:p.Ala320Gly, XP_005248079.1:p.Ala320Gly, XP_005248080.1:p.Ala320Gly, XP_005248081.1:p.Ala320Gly, XP_005248084.1:p.Ala320Gly, NP_115808.3:p.Ala315Gly, XP_005248086.1:p.Ala320Gly, XP_005248087.1:p.Ala320Gly, XP_005248088.1:p.Ala320Gly, XP_006713988.1:p.Ala320Gly, XP_006713990.1:p.Ala320Gly, XP_011511888.1:p.Ala320Gly, XP_016864204.1:p.Ala320Gly, XP_016864209.1:p.Ala320Gly, NP_001123555.1:p.Ala315Gly, NP_001123556.1:p.Ala315Gly, NP_001123557.1:p.Ala315Gly, NP_001123558.1:p.Ala315Gly, NP_001123559.1:p.Ala315Gly, NP_001273617.1:p.Ala72Gly, XP_016864212.1:p.Ala315Gly, NP_001123560.1:p.Ala315Gly, XP_016864214.1:p.Ala315Gly, XP_047272255.1:p.Ala315Gly, XP_047272253.1:p.Ala320Gly, XP_047272254.1:p.Ala320Gly, XP_047272257.1:p.Ala315Gly, XP_047272256.1:p.Ala320Gly, XP_047272258.1:p.Ala320Gly, XP_047272264.1:p.Ala315Gly, XP_047272259.1:p.Ala320Gly, XP_047272261.1:p.Ala320Gly, XP_047272262.1:p.Ala320Gly, XP_047272263.1:p.Ala320Gly, XP_047272265.1:p.Ala320Gly, XP_047272266.1:p.Ala320Gly, XP_047272267.1:p.Ala320Gly, XP_047272268.1:p.Ala320Gly, XP_047272269.1:p.Ala320Gly, XP_047272272.1:p.Ala320Gly, XP_047272273.1:p.Ala315Gly, XP_047272274.1:p.Ala315Gly, XP_047272270.1:p.Ala320Gly, XP_047272271.1:p.Ala320Gly

Select item 147309391111.

rs1473093911 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:8080701 (GRCh38)
4:8082428 (GRCh37)
Canonical SPDI:: NC_000004.12:8080700:G:A
Gene:: ABLIM2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.8080701G>A, NC_000004.11:g.8082428G>A, XM_005248014.6:c.571C>T, XM_005248014.5:c.571C>T, XM_005248014.4:c.571C>T, XM_005248014.3:c.571C>T, XM_005248014.2:c.571C>T, XM_005248014.1:c.571C>T, XM_005248021.6:c.571C>T, XM_005248021.5:c.571C>T, XM_005248021.4:c.571C>T, XM_005248021.3:c.571C>T, XM_005248021.2:c.571C>T, XM_005248021.1:c.571C>T, XM_005248028.6:c.571C>T, XM_005248028.5:c.571C>T, XM_005248028.4:c.571C>T, XM_005248028.3:c.571C>T, XM_005248028.2:c.571C>T, XM_005248028.1:c.571C>T, XM_005248017.5:c.571C>T, XM_005248017.4:c.571C>T, XM_005248017.3:c.571C>T, XM_005248017.2:c.571C>T, XM_005248017.1:c.571C>T, XM_006713923.5:c.571C>T, XM_006713923.4:c.571C>T, XM_006713923.3:c.571C>T, XM_006713923.2:c.571C>T, XM_006713923.1:c.571C>T, XM_006713924.5:c.571C>T, XM_006713924.4:c.571C>T, XM_006713924.3:c.571C>T, XM_006713924.2:c.571C>T, XM_006713924.1:c.571C>T, XM_005248019.5:c.571C>T, XM_005248019.4:c.571C>T, XM_005248019.3:c.571C>T, XM_005248019.2:c.571C>T, XM_005248019.1:c.571C>T, XM_005248020.5:c.571C>T, XM_005248020.4:c.571C>T, XM_005248020.3:c.571C>T, XM_005248020.2:c.571C>T, XM_005248020.1:c.571C>T, XM_005248022.5:c.571C>T, XM_005248022.4:c.571C>T, XM_005248022.3:c.571C>T, XM_005248022.2:c.571C>T, XM_005248022.1:c.571C>T, XM_005248023.5:c.571C>T, XM_005248023.4:c.571C>T, XM_005248023.3:c.571C>T, XM_005248023.2:c.571C>T, XM_005248023.1:c.571C>T, XM_005248024.5:c.571C>T, XM_005248024.4:c.571C>T, XM_005248024.3:c.571C>T, XM_005248024.2:c.571C>T, XM_005248024.1:c.571C>T, XM_005248027.5:c.571C>T, XM_005248027.4:c.571C>T, XM_005248027.3:c.571C>T, XM_005248027.2:c.571C>T, XM_005248027.1:c.571C>T, NM_032432.5:c.556C>T, NM_032432.4:c.556C>T, XM_005248029.5:c.571C>T, XM_005248029.4:c.571C>T, XM_005248029.3:c.571C>T, XM_005248029.2:c.571C>T, XM_005248029.1:c.571C>T, XM_005248030.5:c.571C>T, XM_005248030.4:c.571C>T, XM_005248030.3:c.571C>T, XM_005248030.2:c.571C>T, XM_005248030.1:c.571C>T, XM_005248031.5:c.571C>T, XM_005248031.4:c.571C>T, XM_005248031.3:c.571C>T, XM_005248031.2:c.571C>T, XM_005248031.1:c.571C>T, XM_006713925.4:c.571C>T, XM_006713925.3:c.571C>T, XM_006713925.2:c.571C>T, XM_006713925.1:c.571C>T, XM_006713927.4:c.571C>T, XM_006713927.3:c.571C>T, XM_006713927.2:c.571C>T, XM_006713927.1:c.571C>T, XM_011513586.4:c.571C>T, XM_011513586.3:c.571C>T, XM_011513586.2:c.571C>T, XM_011513586.1:c.571C>T, XM_017008715.3:c.571C>T, XM_017008715.2:c.571C>T, XM_017008715.1:c.571C>T, XM_017008720.3:c.571C>T, XM_017008720.2:c.571C>T, XM_017008720.1:c.571C>T, NM_001130083.2:c.556C>T, NM_001130083.1:c.556C>T, NM_001130084.2:c.556C>T, NM_001130084.1:c.556C>T, NM_001130085.2:c.556C>T, NM_001130085.1:c.556C>T, NM_001130086.2:c.556C>T, NM_001130086.1:c.556C>T, NM_001130087.2:c.556C>T, NM_001130087.1:c.556C>T, XM_017008723.2:c.556C>T, XM_017008723.1:c.556C>T, NM_001130088.2:c.556C>T, NM_001130088.1:c.556C>T, XM_017008725.2:c.556C>T, XM_017008725.1:c.556C>T, XM_047416299.1:c.556C>T, XM_047416297.1:c.571C>T, XM_047416298.1:c.571C>T, XM_047416301.1:c.556C>T, XM_047416300.1:c.571C>T, XM_047416302.1:c.571C>T, XM_047416308.1:c.556C>T, XM_047416303.1:c.571C>T, XM_047416305.1:c.571C>T, XM_047416306.1:c.571C>T, XM_047416307.1:c.571C>T, XM_047416309.1:c.571C>T, XM_047416310.1:c.571C>T, XM_047416311.1:c.571C>T, XM_047416312.1:c.571C>T, XM_047416313.1:c.571C>T, XM_047416316.1:c.571C>T, XM_047416317.1:c.556C>T, XM_047416318.1:c.556C>T, XM_047416314.1:c.571C>T, XM_047416315.1:c.571C>T, XP_005248071.1:p.Leu191Phe, XP_005248078.1:p.Leu191Phe, XP_005248085.1:p.Leu191Phe, XP_005248074.1:p.Leu191Phe, XP_006713986.1:p.Leu191Phe, XP_006713987.1:p.Leu191Phe, XP_005248076.1:p.Leu191Phe, XP_005248077.1:p.Leu191Phe, XP_005248079.1:p.Leu191Phe, XP_005248080.1:p.Leu191Phe, XP_005248081.1:p.Leu191Phe, XP_005248084.1:p.Leu191Phe, NP_115808.3:p.Leu186Phe, XP_005248086.1:p.Leu191Phe, XP_005248087.1:p.Leu191Phe, XP_005248088.1:p.Leu191Phe, XP_006713988.1:p.Leu191Phe, XP_006713990.1:p.Leu191Phe, XP_011511888.1:p.Leu191Phe, XP_016864204.1:p.Leu191Phe, XP_016864209.1:p.Leu191Phe, NP_001123555.1:p.Leu186Phe, NP_001123556.1:p.Leu186Phe, NP_001123557.1:p.Leu186Phe, NP_001123558.1:p.Leu186Phe, NP_001123559.1:p.Leu186Phe, XP_016864212.1:p.Leu186Phe, NP_001123560.1:p.Leu186Phe, XP_016864214.1:p.Leu186Phe, XP_047272255.1:p.Leu186Phe, XP_047272253.1:p.Leu191Phe, XP_047272254.1:p.Leu191Phe, XP_047272257.1:p.Leu186Phe, XP_047272256.1:p.Leu191Phe, XP_047272258.1:p.Leu191Phe, XP_047272264.1:p.Leu186Phe, XP_047272259.1:p.Leu191Phe, XP_047272261.1:p.Leu191Phe, XP_047272262.1:p.Leu191Phe, XP_047272263.1:p.Leu191Phe, XP_047272265.1:p.Leu191Phe, XP_047272266.1:p.Leu191Phe, XP_047272267.1:p.Leu191Phe, XP_047272268.1:p.Leu191Phe, XP_047272269.1:p.Leu191Phe, XP_047272272.1:p.Leu191Phe, XP_047272273.1:p.Leu186Phe, XP_047272274.1:p.Leu186Phe, XP_047272270.1:p.Leu191Phe, XP_047272271.1:p.Leu191Phe

Select item 147296457812.

rs1472964578 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:8097255 (GRCh38)
4:8098982 (GRCh37)
Canonical SPDI:: NC_000004.12:8097254:C:T
Gene:: ABLIM2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
HGVS:: NC_000004.12:g.8097255C>T, NC_000004.11:g.8098982C>T, XM_005248014.6:c.197G>A, XM_005248014.5:c.197G>A, XM_005248014.4:c.197G>A, XM_005248014.3:c.197G>A, XM_005248014.2:c.197G>A, XM_005248014.1:c.197G>A, XM_005248021.6:c.197G>A, XM_005248021.5:c.197G>A, XM_005248021.4:c.197G>A, XM_005248021.3:c.197G>A, XM_005248021.2:c.197G>A, XM_005248021.1:c.197G>A, XM_005248028.6:c.197G>A, XM_005248028.5:c.197G>A, XM_005248028.4:c.197G>A, XM_005248028.3:c.197G>A, XM_005248028.2:c.197G>A, XM_005248028.1:c.197G>A, XM_005248017.5:c.197G>A, XM_005248017.4:c.197G>A, XM_005248017.3:c.197G>A, XM_005248017.2:c.197G>A, XM_005248017.1:c.197G>A, XM_006713923.5:c.197G>A, XM_006713923.4:c.197G>A, XM_006713923.3:c.197G>A, XM_006713923.2:c.197G>A, XM_006713923.1:c.197G>A, XM_006713924.5:c.197G>A, XM_006713924.4:c.197G>A, XM_006713924.3:c.197G>A, XM_006713924.2:c.197G>A, XM_006713924.1:c.197G>A, XM_005248019.5:c.197G>A, XM_005248019.4:c.197G>A, XM_005248019.3:c.197G>A, XM_005248019.2:c.197G>A, XM_005248019.1:c.197G>A, XM_005248020.5:c.197G>A, XM_005248020.4:c.197G>A, XM_005248020.3:c.197G>A, XM_005248020.2:c.197G>A, XM_005248020.1:c.197G>A, XM_005248022.5:c.197G>A, XM_005248022.4:c.197G>A, XM_005248022.3:c.197G>A, XM_005248022.2:c.197G>A, XM_005248022.1:c.197G>A, XM_005248023.5:c.197G>A, XM_005248023.4:c.197G>A, XM_005248023.3:c.197G>A, XM_005248023.2:c.197G>A, XM_005248023.1:c.197G>A, XM_005248024.5:c.197G>A, XM_005248024.4:c.197G>A, XM_005248024.3:c.197G>A, XM_005248024.2:c.197G>A, XM_005248024.1:c.197G>A, XM_005248027.5:c.197G>A, XM_005248027.4:c.197G>A, XM_005248027.3:c.197G>A, XM_005248027.2:c.197G>A, XM_005248027.1:c.197G>A, NM_032432.5:c.182G>A, NM_032432.4:c.182G>A, XM_005248029.5:c.197G>A, XM_005248029.4:c.197G>A, XM_005248029.3:c.197G>A, XM_005248029.2:c.197G>A, XM_005248029.1:c.197G>A, XM_005248030.5:c.197G>A, XM_005248030.4:c.197G>A, XM_005248030.3:c.197G>A, XM_005248030.2:c.197G>A, XM_005248030.1:c.197G>A, XM_005248031.5:c.197G>A, XM_005248031.4:c.197G>A, XM_005248031.3:c.197G>A, XM_005248031.2:c.197G>A, XM_005248031.1:c.197G>A, XM_006713925.4:c.197G>A, XM_006713925.3:c.197G>A, XM_006713925.2:c.197G>A, XM_006713925.1:c.197G>A, XM_006713927.4:c.197G>A, XM_006713927.3:c.197G>A, XM_006713927.2:c.197G>A, XM_006713927.1:c.197G>A, XM_011513586.4:c.197G>A, XM_011513586.3:c.197G>A, XM_011513586.2:c.197G>A, XM_011513586.1:c.197G>A, XM_017008715.3:c.197G>A, XM_017008715.2:c.197G>A, XM_017008715.1:c.197G>A, XM_017008720.3:c.197G>A, XM_017008720.2:c.197G>A, XM_017008720.1:c.197G>A, NM_001130083.2:c.182G>A, NM_001130083.1:c.182G>A, NM_001130084.2:c.182G>A, NM_001130084.1:c.182G>A, NM_001130085.2:c.182G>A, NM_001130085.1:c.182G>A, NM_001130086.2:c.182G>A, NM_001130086.1:c.182G>A, NM_001130087.2:c.182G>A, NM_001130087.1:c.182G>A, XM_017008723.2:c.182G>A, XM_017008723.1:c.182G>A, NM_001130088.2:c.182G>A, NM_001130088.1:c.182G>A, XM_017008725.2:c.182G>A, XM_017008725.1:c.182G>A, XM_047416299.1:c.182G>A, XM_047416297.1:c.197G>A, XM_047416298.1:c.197G>A, XM_047416301.1:c.182G>A, XM_047416300.1:c.197G>A, XM_047416302.1:c.197G>A, XM_047416308.1:c.182G>A, XM_047416303.1:c.197G>A, XM_047416305.1:c.197G>A, XM_047416306.1:c.197G>A, XM_047416307.1:c.197G>A, XM_047416309.1:c.197G>A, XM_047416310.1:c.197G>A, XM_047416311.1:c.197G>A, XM_047416312.1:c.197G>A, XM_047416313.1:c.197G>A, XM_047416316.1:c.197G>A, XM_047416317.1:c.182G>A, XM_047416318.1:c.182G>A, XM_047416314.1:c.197G>A, XM_047416315.1:c.197G>A, XP_005248071.1:p.Gly66Asp, XP_005248078.1:p.Gly66Asp, XP_005248085.1:p.Gly66Asp, XP_005248074.1:p.Gly66Asp, XP_006713986.1:p.Gly66Asp, XP_006713987.1:p.Gly66Asp, XP_005248076.1:p.Gly66Asp, XP_005248077.1:p.Gly66Asp, XP_005248079.1:p.Gly66Asp, XP_005248080.1:p.Gly66Asp, XP_005248081.1:p.Gly66Asp, XP_005248084.1:p.Gly66Asp, NP_115808.3:p.Gly61Asp, XP_005248086.1:p.Gly66Asp, XP_005248087.1:p.Gly66Asp, XP_005248088.1:p.Gly66Asp, XP_006713988.1:p.Gly66Asp, XP_006713990.1:p.Gly66Asp, XP_011511888.1:p.Gly66Asp, XP_016864204.1:p.Gly66Asp, XP_016864209.1:p.Gly66Asp, NP_001123555.1:p.Gly61Asp, NP_001123556.1:p.Gly61Asp, NP_001123557.1:p.Gly61Asp, NP_001123558.1:p.Gly61Asp, NP_001123559.1:p.Gly61Asp, XP_016864212.1:p.Gly61Asp, NP_001123560.1:p.Gly61Asp, XP_016864214.1:p.Gly61Asp, XP_047272255.1:p.Gly61Asp, XP_047272253.1:p.Gly66Asp, XP_047272254.1:p.Gly66Asp, XP_047272257.1:p.Gly61Asp, XP_047272256.1:p.Gly66Asp, XP_047272258.1:p.Gly66Asp, XP_047272264.1:p.Gly61Asp, XP_047272259.1:p.Gly66Asp, XP_047272261.1:p.Gly66Asp, XP_047272262.1:p.Gly66Asp, XP_047272263.1:p.Gly66Asp, XP_047272265.1:p.Gly66Asp, XP_047272266.1:p.Gly66Asp, XP_047272267.1:p.Gly66Asp, XP_047272268.1:p.Gly66Asp, XP_047272269.1:p.Gly66Asp, XP_047272272.1:p.Gly66Asp, XP_047272273.1:p.Gly61Asp, XP_047272274.1:p.Gly61Asp, XP_047272270.1:p.Gly66Asp, XP_047272271.1:p.Gly66Asp

Select item 146973136013.

rs1469731360 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:8029705 (GRCh38)
4:8031432 (GRCh37)
Canonical SPDI:: NC_000004.12:8029704:G:A
Gene:: ABLIM2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
A=0.000025/4 (GnomAD_exomes)
A=0.000142/2 (TOMMO)
A=0.000546/1 (Korea1K)
A=0.001027/3 (KOREAN)
HGVS:: NC_000004.12:g.8029705G>A, NC_000004.11:g.8031432G>A, XM_005248014.6:c.1167C>T, XM_005248014.5:c.1167C>T, XM_005248014.4:c.1167C>T, XM_005248014.3:c.1167C>T, XM_005248014.2:c.1167C>T, XM_005248014.1:c.1167C>T, XM_005248021.6:c.1167C>T, XM_005248021.5:c.1167C>T, XM_005248021.4:c.1167C>T, XM_005248021.3:c.1167C>T, XM_005248021.2:c.1167C>T, XM_005248021.1:c.1167C>T, XM_005248028.6:c.1167C>T, XM_005248028.5:c.1167C>T, XM_005248028.4:c.1167C>T, XM_005248028.3:c.1167C>T, XM_005248028.2:c.1167C>T, XM_005248028.1:c.1167C>T, XM_005248017.5:c.1167C>T, XM_005248017.4:c.1167C>T, XM_005248017.3:c.1167C>T, XM_005248017.2:c.1167C>T, XM_005248017.1:c.1167C>T, XM_006713923.5:c.1167C>T, XM_006713923.4:c.1167C>T, XM_006713923.3:c.1167C>T, XM_006713923.2:c.1167C>T, XM_006713923.1:c.1167C>T, XM_006713924.5:c.1167C>T, XM_006713924.4:c.1167C>T, XM_006713924.3:c.1167C>T, XM_006713924.2:c.1167C>T, XM_006713924.1:c.1167C>T, XM_005248019.5:c.1134C>T, XM_005248019.4:c.1134C>T, XM_005248019.3:c.1134C>T, XM_005248019.2:c.1134C>T, XM_005248019.1:c.1134C>T, XM_005248020.5:c.1134C>T, XM_005248020.4:c.1134C>T, XM_005248020.3:c.1134C>T, XM_005248020.2:c.1134C>T, XM_005248020.1:c.1134C>T, XM_005248022.5:c.1134C>T, XM_005248022.4:c.1134C>T, XM_005248022.3:c.1134C>T, XM_005248022.2:c.1134C>T, XM_005248022.1:c.1134C>T, XM_005248023.5:c.1134C>T, XM_005248023.4:c.1134C>T, XM_005248023.3:c.1134C>T, XM_005248023.2:c.1134C>T, XM_005248023.1:c.1134C>T, XM_005248024.5:c.1134C>T, XM_005248024.4:c.1134C>T, XM_005248024.3:c.1134C>T, XM_005248024.2:c.1134C>T, XM_005248024.1:c.1134C>T, XM_005248027.5:c.1134C>T, XM_005248027.4:c.1134C>T, XM_005248027.3:c.1134C>T, XM_005248027.2:c.1134C>T, XM_005248027.1:c.1134C>T, NM_032432.5:c.1119C>T, NM_032432.4:c.1119C>T, XM_005248029.5:c.1134C>T, XM_005248029.4:c.1134C>T, XM_005248029.3:c.1134C>T, XM_005248029.2:c.1134C>T, XM_005248029.1:c.1134C>T, XM_005248030.5:c.1134C>T, XM_005248030.4:c.1134C>T, XM_005248030.3:c.1134C>T, XM_005248030.2:c.1134C>T, XM_005248030.1:c.1134C>T, XM_005248031.5:c.1167C>T, XM_005248031.4:c.1167C>T, XM_005248031.3:c.1167C>T, XM_005248031.2:c.1167C>T, XM_005248031.1:c.1167C>T, XM_006713925.4:c.1167C>T, XM_006713925.3:c.1167C>T, XM_006713925.2:c.1167C>T, XM_006713925.1:c.1167C>T, XM_006713927.4:c.1167C>T, XM_006713927.3:c.1167C>T, XM_006713927.2:c.1167C>T, XM_006713927.1:c.1167C>T, XM_011513586.4:c.1167C>T, XM_011513586.3:c.1167C>T, XM_011513586.2:c.1167C>T, XM_011513586.1:c.1167C>T, XM_017008715.3:c.1134C>T, XM_017008715.2:c.1134C>T, XM_017008715.1:c.1134C>T, XM_017008720.3:c.1167C>T, XM_017008720.2:c.1167C>T, XM_017008720.1:c.1167C>T, NM_001130083.2:c.1119C>T, NM_001130083.1:c.1119C>T, NM_001130084.2:c.1119C>T, NM_001130084.1:c.1119C>T, NM_001130085.2:c.1119C>T, NM_001130085.1:c.1119C>T, NM_001130086.2:c.1119C>T, NM_001130086.1:c.1119C>T, NM_001130087.2:c.1152C>T, NM_001130087.1:c.1152C>T, NM_001286688.2:c.423C>T, NM_001286688.1:c.423C>T, XM_017008723.2:c.1152C>T, XM_017008723.1:c.1152C>T, NM_001130088.2:c.1152C>T, NM_001130088.1:c.1152C>T, XM_017008725.2:c.1119C>T, XM_017008725.1:c.1119C>T, XM_047416299.1:c.1152C>T, XM_047416297.1:c.1167C>T, XM_047416298.1:c.1167C>T, XM_047416301.1:c.1119C>T, XM_047416300.1:c.1134C>T, XM_047416302.1:c.1167C>T, XM_047416308.1:c.1119C>T, XM_047416303.1:c.1167C>T, XM_047416305.1:c.1167C>T, XM_047416306.1:c.1134C>T, XM_047416307.1:c.1134C>T, XM_047416309.1:c.1134C>T, XM_047416310.1:c.1134C>T, XM_047416311.1:c.1167C>T, XM_047416312.1:c.1167C>T, XM_047416313.1:c.1167C>T, XM_047416316.1:c.1167C>T, XM_047416317.1:c.1119C>T, XM_047416318.1:c.1119C>T, XM_047416314.1:c.1167C>T, XM_047416315.1:c.1167C>T

Select item 146313005814.

rs1463130058 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:8036187 (GRCh38)
4:8037914 (GRCh37)
Canonical SPDI:: NC_000004.12:8036186:T:C
Gene:: ABLIM2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.8036187T>C, NC_000004.11:g.8037914T>C, XM_005248014.6:c.1024A>G, XM_005248014.5:c.1024A>G, XM_005248014.4:c.1024A>G, XM_005248014.3:c.1024A>G, XM_005248014.2:c.1024A>G, XM_005248014.1:c.1024A>G, XM_005248021.6:c.1024A>G, XM_005248021.5:c.1024A>G, XM_005248021.4:c.1024A>G, XM_005248021.3:c.1024A>G, XM_005248021.2:c.1024A>G, XM_005248021.1:c.1024A>G, XM_005248028.6:c.1024A>G, XM_005248028.5:c.1024A>G, XM_005248028.4:c.1024A>G, XM_005248028.3:c.1024A>G, XM_005248028.2:c.1024A>G, XM_005248028.1:c.1024A>G, XM_005248017.5:c.1024A>G, XM_005248017.4:c.1024A>G, XM_005248017.3:c.1024A>G, XM_005248017.2:c.1024A>G, XM_005248017.1:c.1024A>G, XM_006713923.5:c.1024A>G, XM_006713923.4:c.1024A>G, XM_006713923.3:c.1024A>G, XM_006713923.2:c.1024A>G, XM_006713923.1:c.1024A>G, XM_006713924.5:c.1024A>G, XM_006713924.4:c.1024A>G, XM_006713924.3:c.1024A>G, XM_006713924.2:c.1024A>G, XM_006713924.1:c.1024A>G, XM_005248019.5:c.1024A>G, XM_005248019.4:c.1024A>G, XM_005248019.3:c.1024A>G, XM_005248019.2:c.1024A>G, XM_005248019.1:c.1024A>G, XM_005248020.5:c.1024A>G, XM_005248020.4:c.1024A>G, XM_005248020.3:c.1024A>G, XM_005248020.2:c.1024A>G, XM_005248020.1:c.1024A>G, XM_005248022.5:c.1024A>G, XM_005248022.4:c.1024A>G, XM_005248022.3:c.1024A>G, XM_005248022.2:c.1024A>G, XM_005248022.1:c.1024A>G, XM_005248023.5:c.1024A>G, XM_005248023.4:c.1024A>G, XM_005248023.3:c.1024A>G, XM_005248023.2:c.1024A>G, XM_005248023.1:c.1024A>G, XM_005248024.5:c.1024A>G, XM_005248024.4:c.1024A>G, XM_005248024.3:c.1024A>G, XM_005248024.2:c.1024A>G, XM_005248024.1:c.1024A>G, XM_005248027.5:c.1024A>G, XM_005248027.4:c.1024A>G, XM_005248027.3:c.1024A>G, XM_005248027.2:c.1024A>G, XM_005248027.1:c.1024A>G, NM_032432.5:c.1009A>G, NM_032432.4:c.1009A>G, XM_005248029.5:c.1024A>G, XM_005248029.4:c.1024A>G, XM_005248029.3:c.1024A>G, XM_005248029.2:c.1024A>G, XM_005248029.1:c.1024A>G, XM_005248030.5:c.1024A>G, XM_005248030.4:c.1024A>G, XM_005248030.3:c.1024A>G, XM_005248030.2:c.1024A>G, XM_005248030.1:c.1024A>G, XM_005248031.5:c.1024A>G, XM_005248031.4:c.1024A>G, XM_005248031.3:c.1024A>G, XM_005248031.2:c.1024A>G, XM_005248031.1:c.1024A>G, XM_006713925.4:c.1024A>G, XM_006713925.3:c.1024A>G, XM_006713925.2:c.1024A>G, XM_006713925.1:c.1024A>G, XM_006713927.4:c.1024A>G, XM_006713927.3:c.1024A>G, XM_006713927.2:c.1024A>G, XM_006713927.1:c.1024A>G, XM_011513586.4:c.1024A>G, XM_011513586.3:c.1024A>G, XM_011513586.2:c.1024A>G, XM_011513586.1:c.1024A>G, XM_017008715.3:c.1024A>G, XM_017008715.2:c.1024A>G, XM_017008715.1:c.1024A>G, XM_017008720.3:c.1024A>G, XM_017008720.2:c.1024A>G, XM_017008720.1:c.1024A>G, NM_001130083.2:c.1009A>G, NM_001130083.1:c.1009A>G, NM_001130084.2:c.1009A>G, NM_001130084.1:c.1009A>G, NM_001130085.2:c.1009A>G, NM_001130085.1:c.1009A>G, NM_001130086.2:c.1009A>G, NM_001130086.1:c.1009A>G, NM_001130087.2:c.1009A>G, NM_001130087.1:c.1009A>G, NM_001286688.2:c.280A>G, NM_001286688.1:c.280A>G, XM_017008723.2:c.1009A>G, XM_017008723.1:c.1009A>G, NM_001130088.2:c.1009A>G, NM_001130088.1:c.1009A>G, XM_017008725.2:c.1009A>G, XM_017008725.1:c.1009A>G, XM_047416299.1:c.1009A>G, XM_047416297.1:c.1024A>G, XM_047416298.1:c.1024A>G, XM_047416301.1:c.1009A>G, XM_047416300.1:c.1024A>G, XM_047416302.1:c.1024A>G, XM_047416308.1:c.1009A>G, XM_047416303.1:c.1024A>G, XM_047416305.1:c.1024A>G, XM_047416306.1:c.1024A>G, XM_047416307.1:c.1024A>G, XM_047416309.1:c.1024A>G, XM_047416310.1:c.1024A>G, XM_047416311.1:c.1024A>G, XM_047416312.1:c.1024A>G, XM_047416313.1:c.1024A>G, XM_047416316.1:c.1024A>G, XM_047416317.1:c.1009A>G, XM_047416318.1:c.1009A>G, XM_047416314.1:c.1024A>G, XM_047416315.1:c.1024A>G, XP_005248071.1:p.Ile342Val, XP_005248078.1:p.Ile342Val, XP_005248085.1:p.Ile342Val, XP_005248074.1:p.Ile342Val, XP_006713986.1:p.Ile342Val, XP_006713987.1:p.Ile342Val, XP_005248076.1:p.Ile342Val, XP_005248077.1:p.Ile342Val, XP_005248079.1:p.Ile342Val, XP_005248080.1:p.Ile342Val, XP_005248081.1:p.Ile342Val, XP_005248084.1:p.Ile342Val, NP_115808.3:p.Ile337Val, XP_005248086.1:p.Ile342Val, XP_005248087.1:p.Ile342Val, XP_005248088.1:p.Ile342Val, XP_006713988.1:p.Ile342Val, XP_006713990.1:p.Ile342Val, XP_011511888.1:p.Ile342Val, XP_016864204.1:p.Ile342Val, XP_016864209.1:p.Ile342Val, NP_001123555.1:p.Ile337Val, NP_001123556.1:p.Ile337Val, NP_001123557.1:p.Ile337Val, NP_001123558.1:p.Ile337Val, NP_001123559.1:p.Ile337Val, NP_001273617.1:p.Ile94Val, XP_016864212.1:p.Ile337Val, NP_001123560.1:p.Ile337Val, XP_016864214.1:p.Ile337Val, XP_047272255.1:p.Ile337Val, XP_047272253.1:p.Ile342Val, XP_047272254.1:p.Ile342Val, XP_047272257.1:p.Ile337Val, XP_047272256.1:p.Ile342Val, XP_047272258.1:p.Ile342Val, XP_047272264.1:p.Ile337Val, XP_047272259.1:p.Ile342Val, XP_047272261.1:p.Ile342Val, XP_047272262.1:p.Ile342Val, XP_047272263.1:p.Ile342Val, XP_047272265.1:p.Ile342Val, XP_047272266.1:p.Ile342Val, XP_047272267.1:p.Ile342Val, XP_047272268.1:p.Ile342Val, XP_047272269.1:p.Ile342Val, XP_047272272.1:p.Ile342Val, XP_047272273.1:p.Ile337Val, XP_047272274.1:p.Ile337Val, XP_047272270.1:p.Ile342Val, XP_047272271.1:p.Ile342Val

Select item 146050093715.

rs1460500937 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:7983271 (GRCh38)
4:7984998 (GRCh37)
Canonical SPDI:: NC_000004.12:7983270:C:T
Gene:: ABLIM2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.7983271C>T, NC_000004.11:g.7984998C>T, XM_005248014.6:c.1985G>A, XM_005248014.5:c.1985G>A, XM_005248014.4:c.1985G>A, XM_005248014.3:c.1985G>A, XM_005248014.2:c.1985G>A, XM_005248014.1:c.1985G>A, XM_005248021.6:c.1748G>A, XM_005248021.5:c.1748G>A, XM_005248021.4:c.1748G>A, XM_005248021.3:c.1748G>A, XM_005248021.2:c.1748G>A, XM_005248021.1:c.1748G>A, XM_005248028.6:c.1493G>A, XM_005248028.5:c.1493G>A, XM_005248028.4:c.1493G>A, XM_005248028.3:c.1493G>A, XM_005248028.2:c.1493G>A, XM_005248028.1:c.1493G>A, XM_005248017.5:c.1868G>A, XM_005248017.4:c.1868G>A, XM_005248017.3:c.1868G>A, XM_005248017.2:c.1868G>A, XM_005248017.1:c.1868G>A, XM_006713923.5:c.1865G>A, XM_006713923.4:c.1865G>A, XM_006713923.3:c.1865G>A, XM_006713923.2:c.1865G>A, XM_006713923.1:c.1865G>A, XM_006713924.5:c.1862G>A, XM_006713924.4:c.1862G>A, XM_006713924.3:c.1862G>A, XM_006713924.2:c.1862G>A, XM_006713924.1:c.1862G>A, XM_005248019.5:c.1832G>A, XM_005248019.4:c.1832G>A, XM_005248019.3:c.1832G>A, XM_005248019.2:c.1832G>A, XM_005248019.1:c.1832G>A, XM_005248020.5:c.1829G>A, XM_005248020.4:c.1829G>A, XM_005248020.3:c.1829G>A, XM_005248020.2:c.1829G>A, XM_005248020.1:c.1829G>A, XM_005248022.5:c.1730G>A, XM_005248022.4:c.1730G>A, XM_005248022.3:c.1730G>A, XM_005248022.2:c.1730G>A, XM_005248022.1:c.1730G>A, XM_005248023.5:c.1712G>A, XM_005248023.4:c.1712G>A, XM_005248023.3:c.1712G>A, XM_005248023.2:c.1712G>A, XM_005248023.1:c.1712G>A, XM_005248024.5:c.1613G>A, XM_005248024.4:c.1613G>A, XM_005248024.3:c.1613G>A, XM_005248024.2:c.1613G>A, XM_005248024.1:c.1613G>A, XM_005248027.5:c.1574G>A, XM_005248027.4:c.1574G>A, XM_005248027.3:c.1574G>A, XM_005248027.2:c.1574G>A, XM_005248027.1:c.1574G>A, NM_032432.5:c.1445G>A, NM_032432.4:c.1445G>A, XM_005248029.5:c.1460G>A, XM_005248029.4:c.1460G>A, XM_005248029.3:c.1460G>A, XM_005248029.2:c.1460G>A, XM_005248029.1:c.1460G>A, XM_005248030.5:c.1457G>A, XM_005248030.4:c.1457G>A, XM_005248030.3:c.1457G>A, XM_005248030.2:c.1457G>A, XM_005248030.1:c.1457G>A, XM_006713925.4:c.1745G>A, XM_006713925.3:c.1745G>A, XM_006713925.2:c.1745G>A, XM_006713925.1:c.1745G>A, XM_006713927.4:c.1490G>A, XM_006713927.3:c.1490G>A, XM_006713927.2:c.1490G>A, XM_006713927.1:c.1490G>A, XM_011513586.4:c.*28G>A, XM_011513586.3:c.*28G>A, XM_011513586.2:c.*28G>A, XM_011513586.1:c.*28G>A, XM_017008715.3:c.1658G>A, XM_017008715.2:c.1658G>A, XM_017008715.1:c.1658G>A, XM_017008720.3:c.1607G>A, XM_017008720.2:c.1607G>A, XM_017008720.1:c.1607G>A, NM_001130083.2:c.1817G>A, NM_001130083.1:c.1817G>A, NM_001130084.2:c.1715G>A, NM_001130084.1:c.1715G>A, NM_001130085.2:c.1598G>A, NM_001130085.1:c.1598G>A, NM_001130086.2:c.1559G>A, NM_001130086.1:c.1559G>A, NM_001130087.2:c.1475G>A, NM_001130087.1:c.1475G>A, NM_001286688.2:c.920G>A, NM_001286688.1:c.920G>A, XM_047416299.1:c.2093G>A, XM_047416297.1:c.2108G>A, XM_047416298.1:c.2105G>A, XM_047416301.1:c.2060G>A, XM_047416300.1:c.2075G>A, XM_047416302.1:c.2009G>A, XM_047416308.1:c.1961G>A, XM_047416303.1:c.1988G>A, XM_047416305.1:c.1985G>A, XM_047416306.1:c.1976G>A, XM_047416307.1:c.1973G>A, XM_047416309.1:c.1955G>A, XM_047416310.1:c.1952G>A, XM_047416311.1:c.1907G>A, XM_047416312.1:c.1889G>A, XM_047416313.1:c.1886G>A, XM_047416316.1:c.1664G>A, XM_047416314.1:c.*60G>A, XM_047416315.1:c.*60G>A, XP_005248071.1:p.Arg662Lys, XP_005248078.1:p.Arg583Lys, XP_005248085.1:p.Arg498Lys, XP_005248074.1:p.Arg623Lys, XP_006713986.1:p.Arg622Lys, XP_006713987.1:p.Arg621Lys, XP_005248076.1:p.Arg611Lys, XP_005248077.1:p.Arg610Lys, XP_005248079.1:p.Arg577Lys, XP_005248080.1:p.Arg571Lys, XP_005248081.1:p.Arg538Lys, XP_005248084.1:p.Arg525Lys, NP_115808.3:p.Arg482Lys, XP_005248086.1:p.Arg487Lys, XP_005248087.1:p.Arg486Lys, XP_006713988.1:p.Arg582Lys, XP_006713990.1:p.Arg497Lys, XP_016864204.1:p.Arg553Lys, XP_016864209.1:p.Arg536Lys, NP_001123555.1:p.Arg606Lys, NP_001123556.1:p.Arg572Lys, NP_001123557.1:p.Arg533Lys, NP_001123558.1:p.Arg520Lys, NP_001123559.1:p.Arg492Lys, NP_001273617.1:p.Arg307Lys, XP_047272255.1:p.Arg698Lys, XP_047272253.1:p.Arg703Lys, XP_047272254.1:p.Arg702Lys, XP_047272257.1:p.Arg687Lys, XP_047272256.1:p.Arg692Lys, XP_047272258.1:p.Arg670Lys, XP_047272264.1:p.Arg654Lys, XP_047272259.1:p.Arg663Lys, XP_047272261.1:p.Arg662Lys, XP_047272262.1:p.Arg659Lys, XP_047272263.1:p.Arg658Lys, XP_047272265.1:p.Arg652Lys, XP_047272266.1:p.Arg651Lys, XP_047272267.1:p.Arg636Lys, XP_047272268.1:p.Arg630Lys, XP_047272269.1:p.Arg629Lys, XP_047272272.1:p.Arg555Lys

Select item 145983294116.

rs1459832941 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:8088213 (GRCh38)
4:8089940 (GRCh37)
Canonical SPDI:: NC_000004.12:8088212:G:T
Gene:: ABLIM2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.8088213G>T, NC_000004.11:g.8089940G>T, XM_005248014.6:c.425C>A, XM_005248014.5:c.425C>A, XM_005248014.4:c.425C>A, XM_005248014.3:c.425C>A, XM_005248014.2:c.425C>A, XM_005248014.1:c.425C>A, XM_005248021.6:c.425C>A, XM_005248021.5:c.425C>A, XM_005248021.4:c.425C>A, XM_005248021.3:c.425C>A, XM_005248021.2:c.425C>A, XM_005248021.1:c.425C>A, XM_005248028.6:c.425C>A, XM_005248028.5:c.425C>A, XM_005248028.4:c.425C>A, XM_005248028.3:c.425C>A, XM_005248028.2:c.425C>A, XM_005248028.1:c.425C>A, XM_005248017.5:c.425C>A, XM_005248017.4:c.425C>A, XM_005248017.3:c.425C>A, XM_005248017.2:c.425C>A, XM_005248017.1:c.425C>A, XM_006713923.5:c.425C>A, XM_006713923.4:c.425C>A, XM_006713923.3:c.425C>A, XM_006713923.2:c.425C>A, XM_006713923.1:c.425C>A, XM_006713924.5:c.425C>A, XM_006713924.4:c.425C>A, XM_006713924.3:c.425C>A, XM_006713924.2:c.425C>A, XM_006713924.1:c.425C>A, XM_005248019.5:c.425C>A, XM_005248019.4:c.425C>A, XM_005248019.3:c.425C>A, XM_005248019.2:c.425C>A, XM_005248019.1:c.425C>A, XM_005248020.5:c.425C>A, XM_005248020.4:c.425C>A, XM_005248020.3:c.425C>A, XM_005248020.2:c.425C>A, XM_005248020.1:c.425C>A, XM_005248022.5:c.425C>A, XM_005248022.4:c.425C>A, XM_005248022.3:c.425C>A, XM_005248022.2:c.425C>A, XM_005248022.1:c.425C>A, XM_005248023.5:c.425C>A, XM_005248023.4:c.425C>A, XM_005248023.3:c.425C>A, XM_005248023.2:c.425C>A, XM_005248023.1:c.425C>A, XM_005248024.5:c.425C>A, XM_005248024.4:c.425C>A, XM_005248024.3:c.425C>A, XM_005248024.2:c.425C>A, XM_005248024.1:c.425C>A, XM_005248027.5:c.425C>A, XM_005248027.4:c.425C>A, XM_005248027.3:c.425C>A, XM_005248027.2:c.425C>A, XM_005248027.1:c.425C>A, NM_032432.5:c.410C>A, NM_032432.4:c.410C>A, XM_005248029.5:c.425C>A, XM_005248029.4:c.425C>A, XM_005248029.3:c.425C>A, XM_005248029.2:c.425C>A, XM_005248029.1:c.425C>A, XM_005248030.5:c.425C>A, XM_005248030.4:c.425C>A, XM_005248030.3:c.425C>A, XM_005248030.2:c.425C>A, XM_005248030.1:c.425C>A, XM_005248031.5:c.425C>A, XM_005248031.4:c.425C>A, XM_005248031.3:c.425C>A, XM_005248031.2:c.425C>A, XM_005248031.1:c.425C>A, XM_006713925.4:c.425C>A, XM_006713925.3:c.425C>A, XM_006713925.2:c.425C>A, XM_006713925.1:c.425C>A, XM_006713927.4:c.425C>A, XM_006713927.3:c.425C>A, XM_006713927.2:c.425C>A, XM_006713927.1:c.425C>A, XM_011513586.4:c.425C>A, XM_011513586.3:c.425C>A, XM_011513586.2:c.425C>A, XM_011513586.1:c.425C>A, XM_017008715.3:c.425C>A, XM_017008715.2:c.425C>A, XM_017008715.1:c.425C>A, XM_017008720.3:c.425C>A, XM_017008720.2:c.425C>A, XM_017008720.1:c.425C>A, NM_001130083.2:c.410C>A, NM_001130083.1:c.410C>A, NM_001130084.2:c.410C>A, NM_001130084.1:c.410C>A, NM_001130085.2:c.410C>A, NM_001130085.1:c.410C>A, NM_001130086.2:c.410C>A, NM_001130086.1:c.410C>A, NM_001130087.2:c.410C>A, NM_001130087.1:c.410C>A, XM_017008723.2:c.410C>A, XM_017008723.1:c.410C>A, NM_001130088.2:c.410C>A, NM_001130088.1:c.410C>A, XM_017008725.2:c.410C>A, XM_017008725.1:c.410C>A, XM_047416299.1:c.410C>A, XM_047416297.1:c.425C>A, XM_047416298.1:c.425C>A, XM_047416301.1:c.410C>A, XM_047416300.1:c.425C>A, XM_047416302.1:c.425C>A, XM_047416308.1:c.410C>A, XM_047416303.1:c.425C>A, XM_047416305.1:c.425C>A, XM_047416306.1:c.425C>A, XM_047416307.1:c.425C>A, XM_047416309.1:c.425C>A, XM_047416310.1:c.425C>A, XM_047416311.1:c.425C>A, XM_047416312.1:c.425C>A, XM_047416313.1:c.425C>A, XM_047416316.1:c.425C>A, XM_047416317.1:c.410C>A, XM_047416318.1:c.410C>A, XM_047416314.1:c.425C>A, XM_047416315.1:c.425C>A, XP_005248071.1:p.Pro142His, XP_005248078.1:p.Pro142His, XP_005248085.1:p.Pro142His, XP_005248074.1:p.Pro142His, XP_006713986.1:p.Pro142His, XP_006713987.1:p.Pro142His, XP_005248076.1:p.Pro142His, XP_005248077.1:p.Pro142His, XP_005248079.1:p.Pro142His, XP_005248080.1:p.Pro142His, XP_005248081.1:p.Pro142His, XP_005248084.1:p.Pro142His, NP_115808.3:p.Pro137His, XP_005248086.1:p.Pro142His, XP_005248087.1:p.Pro142His, XP_005248088.1:p.Pro142His, XP_006713988.1:p.Pro142His, XP_006713990.1:p.Pro142His, XP_011511888.1:p.Pro142His, XP_016864204.1:p.Pro142His, XP_016864209.1:p.Pro142His, NP_001123555.1:p.Pro137His, NP_001123556.1:p.Pro137His, NP_001123557.1:p.Pro137His, NP_001123558.1:p.Pro137His, NP_001123559.1:p.Pro137His, XP_016864212.1:p.Pro137His, NP_001123560.1:p.Pro137His, XP_016864214.1:p.Pro137His, XP_047272255.1:p.Pro137His, XP_047272253.1:p.Pro142His, XP_047272254.1:p.Pro142His, XP_047272257.1:p.Pro137His, XP_047272256.1:p.Pro142His, XP_047272258.1:p.Pro142His, XP_047272264.1:p.Pro137His, XP_047272259.1:p.Pro142His, XP_047272261.1:p.Pro142His, XP_047272262.1:p.Pro142His, XP_047272263.1:p.Pro142His, XP_047272265.1:p.Pro142His, XP_047272266.1:p.Pro142His, XP_047272267.1:p.Pro142His, XP_047272268.1:p.Pro142His, XP_047272269.1:p.Pro142His, XP_047272272.1:p.Pro142His, XP_047272273.1:p.Pro137His, XP_047272274.1:p.Pro137His, XP_047272270.1:p.Pro142His, XP_047272271.1:p.Pro142His

Select item 145955926217.

rs1459559262 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:7967098 (GRCh38)
4:7968825 (GRCh37)
Canonical SPDI:: NC_000004.12:7967097:G:A
Gene:: ABLIM2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000035/1 (TOMMO)
HGVS:: NC_000004.12:g.7967098G>A, NC_000004.11:g.7968825G>A, XM_005248014.6:c.1998C>T, XM_005248014.5:c.1998C>T, XM_005248014.4:c.1998C>T, XM_005248014.3:c.1998C>T, XM_005248014.2:c.1998C>T, XM_005248014.1:c.1998C>T, XM_005248021.6:c.1761C>T, XM_005248021.5:c.1761C>T, XM_005248021.4:c.1761C>T, XM_005248021.3:c.1761C>T, XM_005248021.2:c.1761C>T, XM_005248021.1:c.1761C>T, XM_005248028.6:c.1506C>T, XM_005248028.5:c.1506C>T, XM_005248028.4:c.1506C>T, XM_005248028.3:c.1506C>T, XM_005248028.2:c.1506C>T, XM_005248028.1:c.1506C>T, XM_005248017.5:c.1881C>T, XM_005248017.4:c.1881C>T, XM_005248017.3:c.1881C>T, XM_005248017.2:c.1881C>T, XM_005248017.1:c.1881C>T, XM_006713923.5:c.1878C>T, XM_006713923.4:c.1878C>T, XM_006713923.3:c.1878C>T, XM_006713923.2:c.1878C>T, XM_006713923.1:c.1878C>T, XM_006713924.5:c.1875C>T, XM_006713924.4:c.1875C>T, XM_006713924.3:c.1875C>T, XM_006713924.2:c.1875C>T, XM_006713924.1:c.1875C>T, XM_005248019.5:c.1845C>T, XM_005248019.4:c.1845C>T, XM_005248019.3:c.1845C>T, XM_005248019.2:c.1845C>T, XM_005248019.1:c.1845C>T, XM_005248020.5:c.1842C>T, XM_005248020.4:c.1842C>T, XM_005248020.3:c.1842C>T, XM_005248020.2:c.1842C>T, XM_005248020.1:c.1842C>T, XM_005248022.5:c.1743C>T, XM_005248022.4:c.1743C>T, XM_005248022.3:c.1743C>T, XM_005248022.2:c.1743C>T, XM_005248022.1:c.1743C>T, XM_005248023.5:c.1725C>T, XM_005248023.4:c.1725C>T, XM_005248023.3:c.1725C>T, XM_005248023.2:c.1725C>T, XM_005248023.1:c.1725C>T, XM_005248024.5:c.1626C>T, XM_005248024.4:c.1626C>T, XM_005248024.3:c.1626C>T, XM_005248024.2:c.1626C>T, XM_005248024.1:c.1626C>T, XM_005248027.5:c.1587C>T, XM_005248027.4:c.1587C>T, XM_005248027.3:c.1587C>T, XM_005248027.2:c.1587C>T, XM_005248027.1:c.1587C>T, NM_032432.5:c.1458C>T, NM_032432.4:c.1458C>T, XM_005248029.5:c.1473C>T, XM_005248029.4:c.1473C>T, XM_005248029.3:c.1473C>T, XM_005248029.2:c.1473C>T, XM_005248029.1:c.1473C>T, XM_005248030.5:c.1470C>T, XM_005248030.4:c.1470C>T, XM_005248030.3:c.1470C>T, XM_005248030.2:c.1470C>T, XM_005248030.1:c.1470C>T, XM_006713925.4:c.1758C>T, XM_006713925.3:c.1758C>T, XM_006713925.2:c.1758C>T, XM_006713925.1:c.1758C>T, XM_006713927.4:c.1503C>T, XM_006713927.3:c.1503C>T, XM_006713927.2:c.1503C>T, XM_006713927.1:c.1503C>T, XM_017008715.3:c.1671C>T, XM_017008715.2:c.1671C>T, XM_017008715.1:c.1671C>T, XM_017008720.3:c.1620C>T, XM_017008720.2:c.1620C>T, XM_017008720.1:c.1620C>T, NM_001130083.2:c.1830C>T, NM_001130083.1:c.1830C>T, NM_001130084.2:c.1728C>T, NM_001130084.1:c.1728C>T, NM_001130085.2:c.1611C>T, NM_001130085.1:c.1611C>T, NM_001130086.2:c.1572C>T, NM_001130086.1:c.1572C>T, NM_001130087.2:c.1488C>T, NM_001130087.1:c.1488C>T, NM_001286688.2:c.933C>T, NM_001286688.1:c.933C>T, XM_047416299.1:c.2106C>T, XM_047416297.1:c.2121C>T, XM_047416298.1:c.2118C>T, XM_047416301.1:c.2073C>T, XM_047416300.1:c.2088C>T, XM_047416302.1:c.2022C>T, XM_047416308.1:c.1974C>T, XM_047416303.1:c.2001C>T, XM_047416305.1:c.1998C>T, XM_047416306.1:c.1989C>T, XM_047416307.1:c.1986C>T, XM_047416309.1:c.1968C>T, XM_047416310.1:c.1965C>T, XM_047416311.1:c.1920C>T, XM_047416312.1:c.1902C>T, XM_047416313.1:c.1899C>T, XM_047416316.1:c.1677C>T

Select item 145755144718.

rs1457551447 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:8097119 (GRCh38)
4:8098846 (GRCh37)
Canonical SPDI:: NC_000004.12:8097118:G:A
Gene:: ABLIM2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.8097119G>A, NC_000004.11:g.8098846G>A, XM_005248014.6:c.333C>T, XM_005248014.5:c.333C>T, XM_005248014.4:c.333C>T, XM_005248014.3:c.333C>T, XM_005248014.2:c.333C>T, XM_005248014.1:c.333C>T, XM_005248021.6:c.333C>T, XM_005248021.5:c.333C>T, XM_005248021.4:c.333C>T, XM_005248021.3:c.333C>T, XM_005248021.2:c.333C>T, XM_005248021.1:c.333C>T, XM_005248028.6:c.333C>T, XM_005248028.5:c.333C>T, XM_005248028.4:c.333C>T, XM_005248028.3:c.333C>T, XM_005248028.2:c.333C>T, XM_005248028.1:c.333C>T, XM_005248017.5:c.333C>T, XM_005248017.4:c.333C>T, XM_005248017.3:c.333C>T, XM_005248017.2:c.333C>T, XM_005248017.1:c.333C>T, XM_006713923.5:c.333C>T, XM_006713923.4:c.333C>T, XM_006713923.3:c.333C>T, XM_006713923.2:c.333C>T, XM_006713923.1:c.333C>T, XM_006713924.5:c.333C>T, XM_006713924.4:c.333C>T, XM_006713924.3:c.333C>T, XM_006713924.2:c.333C>T, XM_006713924.1:c.333C>T, XM_005248019.5:c.333C>T, XM_005248019.4:c.333C>T, XM_005248019.3:c.333C>T, XM_005248019.2:c.333C>T, XM_005248019.1:c.333C>T, XM_005248020.5:c.333C>T, XM_005248020.4:c.333C>T, XM_005248020.3:c.333C>T, XM_005248020.2:c.333C>T, XM_005248020.1:c.333C>T, XM_005248022.5:c.333C>T, XM_005248022.4:c.333C>T, XM_005248022.3:c.333C>T, XM_005248022.2:c.333C>T, XM_005248022.1:c.333C>T, XM_005248023.5:c.333C>T, XM_005248023.4:c.333C>T, XM_005248023.3:c.333C>T, XM_005248023.2:c.333C>T, XM_005248023.1:c.333C>T, XM_005248024.5:c.333C>T, XM_005248024.4:c.333C>T, XM_005248024.3:c.333C>T, XM_005248024.2:c.333C>T, XM_005248024.1:c.333C>T, XM_005248027.5:c.333C>T, XM_005248027.4:c.333C>T, XM_005248027.3:c.333C>T, XM_005248027.2:c.333C>T, XM_005248027.1:c.333C>T, NM_032432.5:c.318C>T, NM_032432.4:c.318C>T, XM_005248029.5:c.333C>T, XM_005248029.4:c.333C>T, XM_005248029.3:c.333C>T, XM_005248029.2:c.333C>T, XM_005248029.1:c.333C>T, XM_005248030.5:c.333C>T, XM_005248030.4:c.333C>T, XM_005248030.3:c.333C>T, XM_005248030.2:c.333C>T, XM_005248030.1:c.333C>T, XM_005248031.5:c.333C>T, XM_005248031.4:c.333C>T, XM_005248031.3:c.333C>T, XM_005248031.2:c.333C>T, XM_005248031.1:c.333C>T, XM_006713925.4:c.333C>T, XM_006713925.3:c.333C>T, XM_006713925.2:c.333C>T, XM_006713925.1:c.333C>T, XM_006713927.4:c.333C>T, XM_006713927.3:c.333C>T, XM_006713927.2:c.333C>T, XM_006713927.1:c.333C>T, XM_011513586.4:c.333C>T, XM_011513586.3:c.333C>T, XM_011513586.2:c.333C>T, XM_011513586.1:c.333C>T, XM_017008715.3:c.333C>T, XM_017008715.2:c.333C>T, XM_017008715.1:c.333C>T, XM_017008720.3:c.333C>T, XM_017008720.2:c.333C>T, XM_017008720.1:c.333C>T, NM_001130083.2:c.318C>T, NM_001130083.1:c.318C>T, NM_001130084.2:c.318C>T, NM_001130084.1:c.318C>T, NM_001130085.2:c.318C>T, NM_001130085.1:c.318C>T, NM_001130086.2:c.318C>T, NM_001130086.1:c.318C>T, NM_001130087.2:c.318C>T, NM_001130087.1:c.318C>T, XM_017008723.2:c.318C>T, XM_017008723.1:c.318C>T, NM_001130088.2:c.318C>T, NM_001130088.1:c.318C>T, XM_017008725.2:c.318C>T, XM_017008725.1:c.318C>T, XM_047416299.1:c.318C>T, XM_047416297.1:c.333C>T, XM_047416298.1:c.333C>T, XM_047416301.1:c.318C>T, XM_047416300.1:c.333C>T, XM_047416302.1:c.333C>T, XM_047416308.1:c.318C>T, XM_047416303.1:c.333C>T, XM_047416305.1:c.333C>T, XM_047416306.1:c.333C>T, XM_047416307.1:c.333C>T, XM_047416309.1:c.333C>T, XM_047416310.1:c.333C>T, XM_047416311.1:c.333C>T, XM_047416312.1:c.333C>T, XM_047416313.1:c.333C>T, XM_047416316.1:c.333C>T, XM_047416317.1:c.318C>T, XM_047416318.1:c.318C>T, XM_047416314.1:c.333C>T, XM_047416315.1:c.333C>T

Select item 145711317119.

rs1457113171 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 4:8106517 (GRCh38)
4:8108244 (GRCh37)
Canonical SPDI:: NC_000004.12:8106516:T:A
Gene:: ABLIM2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.8106517T>A, NC_000004.11:g.8108244T>A, XM_005248014.6:c.146A>T, XM_005248014.5:c.146A>T, XM_005248014.4:c.146A>T, XM_005248014.3:c.146A>T, XM_005248014.2:c.146A>T, XM_005248014.1:c.146A>T, XM_005248021.6:c.146A>T, XM_005248021.5:c.146A>T, XM_005248021.4:c.146A>T, XM_005248021.3:c.146A>T, XM_005248021.2:c.146A>T, XM_005248021.1:c.146A>T, XM_005248028.6:c.146A>T, XM_005248028.5:c.146A>T, XM_005248028.4:c.146A>T, XM_005248028.3:c.146A>T, XM_005248028.2:c.146A>T, XM_005248028.1:c.146A>T, XM_005248017.5:c.146A>T, XM_005248017.4:c.146A>T, XM_005248017.3:c.146A>T, XM_005248017.2:c.146A>T, XM_005248017.1:c.146A>T, XM_006713923.5:c.146A>T, XM_006713923.4:c.146A>T, XM_006713923.3:c.146A>T, XM_006713923.2:c.146A>T, XM_006713923.1:c.146A>T, XM_006713924.5:c.146A>T, XM_006713924.4:c.146A>T, XM_006713924.3:c.146A>T, XM_006713924.2:c.146A>T, XM_006713924.1:c.146A>T, XM_005248019.5:c.146A>T, XM_005248019.4:c.146A>T, XM_005248019.3:c.146A>T, XM_005248019.2:c.146A>T, XM_005248019.1:c.146A>T, XM_005248020.5:c.146A>T, XM_005248020.4:c.146A>T, XM_005248020.3:c.146A>T, XM_005248020.2:c.146A>T, XM_005248020.1:c.146A>T, XM_005248022.5:c.146A>T, XM_005248022.4:c.146A>T, XM_005248022.3:c.146A>T, XM_005248022.2:c.146A>T, XM_005248022.1:c.146A>T, XM_005248023.5:c.146A>T, XM_005248023.4:c.146A>T, XM_005248023.3:c.146A>T, XM_005248023.2:c.146A>T, XM_005248023.1:c.146A>T, XM_005248024.5:c.146A>T, XM_005248024.4:c.146A>T, XM_005248024.3:c.146A>T, XM_005248024.2:c.146A>T, XM_005248024.1:c.146A>T, XM_005248027.5:c.146A>T, XM_005248027.4:c.146A>T, XM_005248027.3:c.146A>T, XM_005248027.2:c.146A>T, XM_005248027.1:c.146A>T, NM_032432.5:c.131A>T, NM_032432.4:c.131A>T, XM_005248029.5:c.146A>T, XM_005248029.4:c.146A>T, XM_005248029.3:c.146A>T, XM_005248029.2:c.146A>T, XM_005248029.1:c.146A>T, XM_005248030.5:c.146A>T, XM_005248030.4:c.146A>T, XM_005248030.3:c.146A>T, XM_005248030.2:c.146A>T, XM_005248030.1:c.146A>T, XM_005248031.5:c.146A>T, XM_005248031.4:c.146A>T, XM_005248031.3:c.146A>T, XM_005248031.2:c.146A>T, XM_005248031.1:c.146A>T, XM_006713925.4:c.146A>T, XM_006713925.3:c.146A>T, XM_006713925.2:c.146A>T, XM_006713925.1:c.146A>T, XM_006713927.4:c.146A>T, XM_006713927.3:c.146A>T, XM_006713927.2:c.146A>T, XM_006713927.1:c.146A>T, XM_011513586.4:c.146A>T, XM_011513586.3:c.146A>T, XM_011513586.2:c.146A>T, XM_011513586.1:c.146A>T, XM_017008715.3:c.146A>T, XM_017008715.2:c.146A>T, XM_017008715.1:c.146A>T, XM_017008720.3:c.146A>T, XM_017008720.2:c.146A>T, XM_017008720.1:c.146A>T, NM_001130083.2:c.131A>T, NM_001130083.1:c.131A>T, NM_001130084.2:c.131A>T, NM_001130084.1:c.131A>T, NM_001130085.2:c.131A>T, NM_001130085.1:c.131A>T, NM_001130086.2:c.131A>T, NM_001130086.1:c.131A>T, NM_001130087.2:c.131A>T, NM_001130087.1:c.131A>T, XM_017008723.2:c.131A>T, XM_017008723.1:c.131A>T, NM_001130088.2:c.131A>T, NM_001130088.1:c.131A>T, XM_017008725.2:c.131A>T, XM_017008725.1:c.131A>T, XM_047416299.1:c.131A>T, XM_047416297.1:c.146A>T, XM_047416298.1:c.146A>T, XM_047416301.1:c.131A>T, XM_047416300.1:c.146A>T, XM_047416302.1:c.146A>T, XM_047416308.1:c.131A>T, XM_047416303.1:c.146A>T, XM_047416305.1:c.146A>T, XM_047416306.1:c.146A>T, XM_047416307.1:c.146A>T, XM_047416309.1:c.146A>T, XM_047416310.1:c.146A>T, XM_047416311.1:c.146A>T, XM_047416312.1:c.146A>T, XM_047416313.1:c.146A>T, XM_047416316.1:c.146A>T, XM_047416317.1:c.131A>T, XM_047416318.1:c.131A>T, XM_047416314.1:c.146A>T, XM_047416315.1:c.146A>T, XP_005248071.1:p.His49Leu, XP_005248078.1:p.His49Leu, XP_005248085.1:p.His49Leu, XP_005248074.1:p.His49Leu, XP_006713986.1:p.His49Leu, XP_006713987.1:p.His49Leu, XP_005248076.1:p.His49Leu, XP_005248077.1:p.His49Leu, XP_005248079.1:p.His49Leu, XP_005248080.1:p.His49Leu, XP_005248081.1:p.His49Leu, XP_005248084.1:p.His49Leu, NP_115808.3:p.His44Leu, XP_005248086.1:p.His49Leu, XP_005248087.1:p.His49Leu, XP_005248088.1:p.His49Leu, XP_006713988.1:p.His49Leu, XP_006713990.1:p.His49Leu, XP_011511888.1:p.His49Leu, XP_016864204.1:p.His49Leu, XP_016864209.1:p.His49Leu, NP_001123555.1:p.His44Leu, NP_001123556.1:p.His44Leu, NP_001123557.1:p.His44Leu, NP_001123558.1:p.His44Leu, NP_001123559.1:p.His44Leu, XP_016864212.1:p.His44Leu, NP_001123560.1:p.His44Leu, XP_016864214.1:p.His44Leu, XP_047272255.1:p.His44Leu, XP_047272253.1:p.His49Leu, XP_047272254.1:p.His49Leu, XP_047272257.1:p.His44Leu, XP_047272256.1:p.His49Leu, XP_047272258.1:p.His49Leu, XP_047272264.1:p.His44Leu, XP_047272259.1:p.His49Leu, XP_047272261.1:p.His49Leu, XP_047272262.1:p.His49Leu, XP_047272263.1:p.His49Leu, XP_047272265.1:p.His49Leu, XP_047272266.1:p.His49Leu, XP_047272267.1:p.His49Leu, XP_047272268.1:p.His49Leu, XP_047272269.1:p.His49Leu, XP_047272272.1:p.His49Leu, XP_047272273.1:p.His44Leu, XP_047272274.1:p.His44Leu, XP_047272270.1:p.His49Leu, XP_047272271.1:p.His49Leu

Select item 145681364720.

rs1456813647 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:8019666 (GRCh38)
4:8021393 (GRCh37)
Canonical SPDI:: NC_000004.12:8019665:C:A
Gene:: ABLIM2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.8019666C>A, NC_000004.11:g.8021393C>A, XM_005248014.6:c.1423G>T, XM_005248014.5:c.1423G>T, XM_005248014.4:c.1423G>T, XM_005248014.3:c.1423G>T, XM_005248014.2:c.1423G>T, XM_005248014.1:c.1423G>T, XM_005248021.6:c.1423G>T, XM_005248021.5:c.1423G>T, XM_005248021.4:c.1423G>T, XM_005248021.3:c.1423G>T, XM_005248021.2:c.1423G>T, XM_005248021.1:c.1423G>T, XM_005248017.5:c.1423G>T, XM_005248017.4:c.1423G>T, XM_005248017.3:c.1423G>T, XM_005248017.2:c.1423G>T, XM_005248017.1:c.1423G>T, XM_006713923.5:c.1423G>T, XM_006713923.4:c.1423G>T, XM_006713923.3:c.1423G>T, XM_006713923.2:c.1423G>T, XM_006713923.1:c.1423G>T, XM_006713924.5:c.1423G>T, XM_006713924.4:c.1423G>T, XM_006713924.3:c.1423G>T, XM_006713924.2:c.1423G>T, XM_006713924.1:c.1423G>T, XM_005248019.5:c.1390G>T, XM_005248019.4:c.1390G>T, XM_005248019.3:c.1390G>T, XM_005248019.2:c.1390G>T, XM_005248019.1:c.1390G>T, XM_005248020.5:c.1390G>T, XM_005248020.4:c.1390G>T, XM_005248020.3:c.1390G>T, XM_005248020.2:c.1390G>T, XM_005248020.1:c.1390G>T, XM_005248022.5:c.1291G>T, XM_005248022.4:c.1291G>T, XM_005248022.3:c.1291G>T, XM_005248022.2:c.1291G>T, XM_005248022.1:c.1291G>T, XM_005248023.5:c.1390G>T, XM_005248023.4:c.1390G>T, XM_005248023.3:c.1390G>T, XM_005248023.2:c.1390G>T, XM_005248023.1:c.1390G>T, XM_005248024.5:c.1291G>T, XM_005248024.4:c.1291G>T, XM_005248024.3:c.1291G>T, XM_005248024.2:c.1291G>T, XM_005248024.1:c.1291G>T, XM_006713925.4:c.1423G>T, XM_006713925.3:c.1423G>T, XM_006713925.2:c.1423G>T, XM_006713925.1:c.1423G>T, XM_011513586.4:c.1423G>T, XM_011513586.3:c.1423G>T, XM_011513586.2:c.1423G>T, XM_011513586.1:c.1423G>T, NM_001130083.2:c.1375G>T, NM_001130083.1:c.1375G>T, NM_001130084.2:c.1276G>T, NM_001130084.1:c.1276G>T, NM_001130085.2:c.1276G>T, NM_001130085.1:c.1276G>T, NM_001286688.2:c.478G>T, NM_001286688.1:c.478G>T, XM_017008723.2:c.1408G>T, XM_017008723.1:c.1408G>T, XM_047416299.1:c.1408G>T, XM_047416297.1:c.1423G>T, XM_047416298.1:c.1423G>T, XM_047416301.1:c.1375G>T, XM_047416300.1:c.1390G>T, XM_047416302.1:c.1324G>T, XM_047416308.1:c.1276G>T, XM_047416303.1:c.1423G>T, XM_047416305.1:c.1423G>T, XM_047416306.1:c.1291G>T, XM_047416307.1:c.1291G>T, XM_047416309.1:c.1390G>T, XM_047416310.1:c.1390G>T, XM_047416311.1:c.1222G>T, XM_047416312.1:c.1324G>T, XM_047416313.1:c.1324G>T, XM_047416316.1:c.1222G>T, XM_047416314.1:c.1423G>T, XM_047416315.1:c.1423G>T, XP_005248071.1:p.Gly475Cys, XP_005248078.1:p.Gly475Cys, XP_005248074.1:p.Gly475Cys, XP_006713986.1:p.Gly475Cys, XP_006713987.1:p.Gly475Cys, XP_005248076.1:p.Gly464Cys, XP_005248077.1:p.Gly464Cys, XP_005248079.1:p.Gly431Cys, XP_005248080.1:p.Gly464Cys, XP_005248081.1:p.Gly431Cys, XP_006713988.1:p.Gly475Cys, XP_011511888.1:p.Gly475Cys, NP_001123555.1:p.Gly459Cys, NP_001123556.1:p.Gly426Cys, NP_001123557.1:p.Gly426Cys, NP_001273617.1:p.Gly160Cys, XP_016864212.1:p.Gly470Cys, XP_047272255.1:p.Gly470Cys, XP_047272253.1:p.Gly475Cys, XP_047272254.1:p.Gly475Cys, XP_047272257.1:p.Gly459Cys, XP_047272256.1:p.Gly464Cys, XP_047272258.1:p.Gly442Cys, XP_047272264.1:p.Gly426Cys, XP_047272259.1:p.Gly475Cys, XP_047272261.1:p.Gly475Cys, XP_047272262.1:p.Gly431Cys, XP_047272263.1:p.Gly431Cys, XP_047272265.1:p.Gly464Cys, XP_047272266.1:p.Gly464Cys, XP_047272267.1:p.Gly408Cys, XP_047272268.1:p.Gly442Cys, XP_047272269.1:p.Gly442Cys, XP_047272272.1:p.Gly408Cys, XP_047272270.1:p.Gly475Cys, XP_047272271.1:p.Gly475Cys

dbSNP

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Global MAF

Custom range

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dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Links from Protein

Items: 1 to 20 of 729

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Page of 37

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Supplemental Content

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