SNP Links for Protein (Select 53832001) - SNP

Links from Protein

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Select item 14913972051.

rs1491397205 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>- [Show Flanks]
Chromosome:: 1:65218874 (GRCh38)
1:65684557 (GRCh37)
Canonical SPDI:: NC_000001.11:65218872:CAC:C
Gene:: AK4 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.65218874_65218875del, NC_000001.10:g.65684557_65684558del, NM_013410.4:c.386_387del, NM_013410.3:c.386_387del, NM_001005353.3:c.386_387del, NM_001005353.2:c.386_387del, NM_203464.3:c.386_387del, NM_203464.2:c.386_387del, NM_001330616.2:c.230_231del, NM_001330616.1:c.230_231del, XM_017000613.2:c.230_231del, XM_017000613.1:c.230_231del, XM_047449174.1:c.230_231del, NM_001002921.1:c.386_387del, NP_037542.1:p.His129fs, NP_001005353.1:p.His129fs, NP_982289.1:p.His129fs, NP_001317545.1:p.His77fs, XP_016856102.1:p.His77fs, XP_047305130.1:p.His77fs

Select item 14913970212.

rs1491397021 [Homo sapiens]

Variant type:: INS
Alleles:: ->CCTCCTAGCGGAAGGGTATAT [Show Flanks]
Chromosome:: 1:65218873 (GRCh38)
1:65684557 (GRCh37)
Canonical SPDI:: NC_000001.11:65218873::CCTCCTAGCGGAAGGGTATAT
Gene:: AK4 (Varview)
Functional Consequence:: stop_gained,inframe_indel,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: CCTCCTAGCGGAAGGGTATAT=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.65218873_65218874insCCTCCTAGCGGAAGGGTATAT, NC_000001.10:g.65684556_65684557insCCTCCTAGCGGAAGGGTATAT, NM_013410.4:c.385_386insCCTCCTAGCGGAAGGGTATAT, NM_013410.3:c.385_386insCCTCCTAGCGGAAGGGTATAT, NM_001005353.3:c.385_386insCCTCCTAGCGGAAGGGTATAT, NM_001005353.2:c.385_386insCCTCCTAGCGGAAGGGTATAT, NM_203464.3:c.385_386insCCTCCTAGCGGAAGGGTATAT, NM_203464.2:c.385_386insCCTCCTAGCGGAAGGGTATAT, NM_001330616.2:c.229_230insCCTCCTAGCGGAAGGGTATAT, NM_001330616.1:c.229_230insCCTCCTAGCGGAAGGGTATAT, XM_017000613.2:c.229_230insCCTCCTAGCGGAAGGGTATAT, XM_017000613.1:c.229_230insCCTCCTAGCGGAAGGGTATAT, XM_047449174.1:c.229_230insCCTCCTAGCGGAAGGGTATAT, NM_001002921.1:c.385_386insCCTCCTAGCGGAAGGGTATAT, NP_037542.1:p.His129delinsProSerTer, NP_001005353.1:p.His129delinsProSerTer, NP_982289.1:p.His129delinsProSerTer, NP_001317545.1:p.His77delinsProSerTer, XP_016856102.1:p.His77delinsProSerTer, XP_047305130.1:p.His77delinsProSerTer

Select item 14873212173.

rs1487321217 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:65226119 (GRCh38)
1:65691802 (GRCh37)
Canonical SPDI:: NC_000001.11:65226118:A:C
Gene:: AK4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.65226119A>C, NC_000001.10:g.65691802A>C, NM_013410.4:c.614A>C, NM_013410.3:c.614A>C, NM_001005353.3:c.614A>C, NM_001005353.2:c.614A>C, NM_203464.3:c.614A>C, NM_203464.2:c.614A>C, NM_001330616.2:c.458A>C, NM_001330616.1:c.458A>C, XM_017000613.2:c.458A>C, XM_017000613.1:c.458A>C, XM_047449174.1:c.458A>C, NM_001002921.1:c.614A>C, NP_037542.1:p.Tyr205Ser, NP_001005353.1:p.Tyr205Ser, NP_982289.1:p.Tyr205Ser, NP_001317545.1:p.Tyr153Ser, XP_016856102.1:p.Tyr153Ser, XP_047305130.1:p.Tyr153Ser

Select item 14693238284.

rs1469323828 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:65190739 (GRCh38)
1:65656422 (GRCh37)
Canonical SPDI:: NC_000001.11:65190738:G:C
Gene:: AK4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.65190739G>C, NC_000001.10:g.65656422G>C, NM_013410.4:c.175G>C, NM_013410.3:c.175G>C, NM_001005353.3:c.175G>C, NM_001005353.2:c.175G>C, NM_203464.3:c.175G>C, NM_203464.2:c.175G>C, NM_001330616.2:c.19G>C, NM_001330616.1:c.19G>C, XM_017000613.2:c.19G>C, XM_017000613.1:c.19G>C, XM_047449174.1:c.19G>C, NM_001002921.1:c.175G>C, NP_037542.1:p.Glu59Gln, NP_001005353.1:p.Glu59Gln, NP_982289.1:p.Glu59Gln, NP_001317545.1:p.Glu7Gln, XP_016856102.1:p.Glu7Gln, XP_047305130.1:p.Glu7Gln

Select item 14619858425.

rs1461985842 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:65226139 (GRCh38)
1:65691822 (GRCh37)
Canonical SPDI:: NC_000001.11:65226138:A:G
Gene:: AK4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.65226139A>G, NC_000001.10:g.65691822A>G, NM_013410.4:c.634A>G, NM_013410.3:c.634A>G, NM_001005353.3:c.634A>G, NM_001005353.2:c.634A>G, NM_203464.3:c.634A>G, NM_203464.2:c.634A>G, NM_001330616.2:c.478A>G, NM_001330616.1:c.478A>G, XM_017000613.2:c.478A>G, XM_017000613.1:c.478A>G, XM_047449174.1:c.478A>G, NM_001002921.1:c.634A>G, NP_037542.1:p.Asn212Asp, NP_001005353.1:p.Asn212Asp, NP_982289.1:p.Asn212Asp, NP_001317545.1:p.Asn160Asp, XP_016856102.1:p.Asn160Asp, XP_047305130.1:p.Asn160Asp

Select item 14575769486.

rs1457576948 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:65226149 (GRCh38)
1:65691832 (GRCh37)
Canonical SPDI:: NC_000001.11:65226148:C:T
Gene:: AK4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.65226149C>T, NC_000001.10:g.65691832C>T, NM_013410.4:c.644C>T, NM_013410.3:c.644C>T, NM_001005353.3:c.644C>T, NM_001005353.2:c.644C>T, NM_203464.3:c.644C>T, NM_203464.2:c.644C>T, NM_001330616.2:c.488C>T, NM_001330616.1:c.488C>T, XM_017000613.2:c.488C>T, XM_017000613.1:c.488C>T, XM_047449174.1:c.488C>T, NM_001002921.1:c.644C>T, NP_037542.1:p.Thr215Ile, NP_001005353.1:p.Thr215Ile, NP_982289.1:p.Thr215Ile, NP_001317545.1:p.Thr163Ile, XP_016856102.1:p.Thr163Ile, XP_047305130.1:p.Thr163Ile

Select item 14557191317.

rs1455719131 [Homo sapiens]

Variant type:: INS
Alleles:: ->GCA [Show Flanks]
Chromosome:: 1:65218844 (GRCh38)
1:65684528 (GRCh37)
Canonical SPDI:: NC_000001.11:65218844::GCA
Gene:: AK4 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_insertion
HGVS:: NC_000001.11:g.65218844_65218845insGCA, NC_000001.10:g.65684527_65684528insGCA, NM_013410.4:c.356_357insGCA, NM_013410.3:c.356_357insGCA, NM_001005353.3:c.356_357insGCA, NM_001005353.2:c.356_357insGCA, NM_203464.3:c.356_357insGCA, NM_203464.2:c.356_357insGCA, NM_001330616.2:c.200_201insGCA, NM_001330616.1:c.200_201insGCA, XM_017000613.2:c.200_201insGCA, XM_017000613.1:c.200_201insGCA, XM_047449174.1:c.200_201insGCA, NM_001002921.1:c.356_357insGCA, NP_037542.1:p.Lys120_Asp121insHis, NP_001005353.1:p.Lys120_Asp121insHis, NP_982289.1:p.Lys120_Asp121insHis, NP_001317545.1:p.Lys68_Asp69insHis, XP_016856102.1:p.Lys68_Asp69insHis, XP_047305130.1:p.Lys68_Asp69insHis

Select item 14417379588.

rs1441737958 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:65226084 (GRCh38)
1:65691767 (GRCh37)
Canonical SPDI:: NC_000001.11:65226083:A:G
Gene:: AK4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.65226084A>G, NC_000001.10:g.65691767A>G, NM_013410.4:c.579A>G, NM_013410.3:c.579A>G, NM_001005353.3:c.579A>G, NM_001005353.2:c.579A>G, NM_203464.3:c.579A>G, NM_203464.2:c.579A>G, NM_001330616.2:c.423A>G, NM_001330616.1:c.423A>G, XM_017000613.2:c.423A>G, XM_017000613.1:c.423A>G, XM_047449174.1:c.423A>G, NM_001002921.1:c.579A>G

Select item 14378409179.

rs1437840917 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:65218831 (GRCh38)
1:65684514 (GRCh37)
Canonical SPDI:: NC_000001.11:65218830:C:G,NC_000001.11:65218830:C:T
Gene:: AK4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.65218831C>G, NC_000001.11:g.65218831C>T, NC_000001.10:g.65684514C>G, NC_000001.10:g.65684514C>T, NM_013410.4:c.343C>G, NM_013410.4:c.343C>T, NM_013410.3:c.343C>G, NM_013410.3:c.343C>T, NM_001005353.3:c.343C>G, NM_001005353.3:c.343C>T, NM_001005353.2:c.343C>G, NM_001005353.2:c.343C>T, NM_203464.3:c.343C>G, NM_203464.3:c.343C>T, NM_203464.2:c.343C>G, NM_203464.2:c.343C>T, NM_001330616.2:c.187C>G, NM_001330616.2:c.187C>T, NM_001330616.1:c.187C>G, NM_001330616.1:c.187C>T, XM_017000613.2:c.187C>G, XM_017000613.2:c.187C>T, XM_017000613.1:c.187C>G, XM_017000613.1:c.187C>T, XM_047449174.1:c.187C>G, XM_047449174.1:c.187C>T, NM_001002921.1:c.343C>G, NM_001002921.1:c.343C>T, NP_037542.1:p.Pro115Ala, NP_037542.1:p.Pro115Ser, NP_001005353.1:p.Pro115Ala, NP_001005353.1:p.Pro115Ser, NP_982289.1:p.Pro115Ala, NP_982289.1:p.Pro115Ser, NP_001317545.1:p.Pro63Ala, NP_001317545.1:p.Pro63Ser, XP_016856102.1:p.Pro63Ala, XP_016856102.1:p.Pro63Ser, XP_047305130.1:p.Pro63Ala, XP_047305130.1:p.Pro63Ser

Select item 143057370510.

rs1430573705 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:65224772 (GRCh38)
1:65690455 (GRCh37)
Canonical SPDI:: NC_000001.11:65224771:T:C
Gene:: AK4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.65224772T>C, NC_000001.10:g.65690455T>C, NM_013410.4:c.459T>C, NM_013410.3:c.459T>C, NM_001005353.3:c.459T>C, NM_001005353.2:c.459T>C, NM_203464.3:c.459T>C, NM_203464.2:c.459T>C, NM_001330616.2:c.303T>C, NM_001330616.1:c.303T>C, XM_017000613.2:c.303T>C, XM_017000613.1:c.303T>C, XM_047449174.1:c.303T>C, NM_001002921.1:c.459T>C

Select item 142389678111.

rs1423896781 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 1:65218818 (GRCh38)
1:65684502 (GRCh37)
Canonical SPDI:: NC_000001.11:65218818:A:AA
Gene:: AK4 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.65218819dup, NC_000001.10:g.65684502dup, NM_013410.4:c.331dup, NM_013410.3:c.331dup, NM_001005353.3:c.331dup, NM_001005353.2:c.331dup, NM_203464.3:c.331dup, NM_203464.2:c.331dup, NM_001330616.2:c.175dup, NM_001330616.1:c.175dup, XM_017000613.2:c.175dup, XM_017000613.1:c.175dup, XM_047449174.1:c.175dup, NM_001002921.1:c.331dup, NP_037542.1:p.Ser111fs, NP_001005353.1:p.Ser111fs, NP_982289.1:p.Ser111fs, NP_001317545.1:p.Ser59fs, XP_016856102.1:p.Ser59fs, XP_047305130.1:p.Ser59fs

Select item 142284512912.

rs1422845129 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:65226137 (GRCh38)
1:65691820 (GRCh37)
Canonical SPDI:: NC_000001.11:65226136:C:A
Gene:: AK4 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.65226137C>A, NC_000001.10:g.65691820C>A, NM_013410.4:c.632C>A, NM_013410.3:c.632C>A, NM_001005353.3:c.632C>A, NM_001005353.2:c.632C>A, NM_203464.3:c.632C>A, NM_203464.2:c.632C>A, NM_001330616.2:c.476C>A, NM_001330616.1:c.476C>A, XM_017000613.2:c.476C>A, XM_017000613.1:c.476C>A, XM_047449174.1:c.476C>A, NM_001002921.1:c.632C>A, NP_037542.1:p.Ser211Ter, NP_001005353.1:p.Ser211Ter, NP_982289.1:p.Ser211Ter, NP_001317545.1:p.Ser159Ter, XP_016856102.1:p.Ser159Ter, XP_047305130.1:p.Ser159Ter

Select item 142254724313.

rs1422547243 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:65224787 (GRCh38)
1:65690470 (GRCh37)
Canonical SPDI:: NC_000001.11:65224786:G:A
Gene:: AK4 (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)
A=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000001.11:g.65224787G>A, NC_000001.10:g.65690470G>A, NM_013410.4:c.474G>A, NM_013410.3:c.474G>A, NM_001005353.3:c.474G>A, NM_001005353.2:c.474G>A, NM_203464.3:c.474G>A, NM_203464.2:c.474G>A, NM_001330616.2:c.318G>A, NM_001330616.1:c.318G>A, XM_017000613.2:c.318G>A, XM_017000613.1:c.318G>A, XM_047449174.1:c.318G>A, NM_001002921.1:c.474G>A

Select item 142044251814.

rs1420442518 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:65148457 (GRCh38)
1:65614140 (GRCh37)
Canonical SPDI:: NC_000001.11:65148456:G:A
Gene:: AK4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.65148457G>A, NC_000001.10:g.65614140G>A, NM_013410.4:c.50G>A, NM_013410.3:c.50G>A, NM_001005353.3:c.50G>A, NM_001005353.2:c.50G>A, NM_203464.3:c.50G>A, NM_203464.2:c.50G>A, NM_001002921.1:c.50G>A, NP_037542.1:p.Gly17Asp, NP_001005353.1:p.Gly17Asp, NP_982289.1:p.Gly17Asp

Select item 141979322015.

rs1419793220 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:65190780 (GRCh38)
1:65656463 (GRCh37)
Canonical SPDI:: NC_000001.11:65190779:A:G
Gene:: AK4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.65190780A>G, NC_000001.10:g.65656463A>G, NM_013410.4:c.216A>G, NM_013410.3:c.216A>G, NM_001005353.3:c.216A>G, NM_001005353.2:c.216A>G, NM_203464.3:c.216A>G, NM_203464.2:c.216A>G, NM_001330616.2:c.60A>G, NM_001330616.1:c.60A>G, XM_017000613.2:c.60A>G, XM_017000613.1:c.60A>G, XM_047449174.1:c.60A>G, NM_001002921.1:c.216A>G

Select item 141278157216.

rs1412781572 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:65148504 (GRCh38)
1:65614187 (GRCh37)
Canonical SPDI:: NC_000001.11:65148503:C:T
Gene:: AK4 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,upstream_transcript_variant,coding_sequence_variant,intron_variant
HGVS:: NC_000001.11:g.65148504C>T, NC_000001.10:g.65614187C>T, NM_013410.4:c.97C>T, NM_013410.3:c.97C>T, NM_001005353.3:c.97C>T, NM_001005353.2:c.97C>T, NM_203464.3:c.97C>T, NM_203464.2:c.97C>T, NM_001002921.1:c.97C>T, NP_037542.1:p.His33Tyr, NP_001005353.1:p.His33Tyr, NP_982289.1:p.His33Tyr

Select item 140730006517.

rs1407300065 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:65226077 (GRCh38)
1:65691760 (GRCh37)
Canonical SPDI:: NC_000001.11:65226076:T:C
Gene:: AK4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000001.11:g.65226077T>C, NC_000001.10:g.65691760T>C, NM_013410.4:c.572T>C, NM_013410.3:c.572T>C, NM_001005353.3:c.572T>C, NM_001005353.2:c.572T>C, NM_203464.3:c.572T>C, NM_203464.2:c.572T>C, NM_001330616.2:c.416T>C, NM_001330616.1:c.416T>C, XM_017000613.2:c.416T>C, XM_017000613.1:c.416T>C, XM_047449174.1:c.416T>C, NM_001002921.1:c.572T>C, NP_037542.1:p.Leu191Pro, NP_001005353.1:p.Leu191Pro, NP_982289.1:p.Leu191Pro, NP_001317545.1:p.Leu139Pro, XP_016856102.1:p.Leu139Pro, XP_047305130.1:p.Leu139Pro

Select item 140365593318.

rs1403655933 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:65190731 (GRCh38)
1:65656414 (GRCh37)
Canonical SPDI:: NC_000001.11:65190730:A:G
Gene:: AK4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.65190731A>G, NC_000001.10:g.65656414A>G, NM_013410.4:c.167A>G, NM_013410.3:c.167A>G, NM_001005353.3:c.167A>G, NM_001005353.2:c.167A>G, NM_203464.3:c.167A>G, NM_203464.2:c.167A>G, NM_001330616.2:c.11A>G, NM_001330616.1:c.11A>G, XM_017000613.2:c.11A>G, XM_017000613.1:c.11A>G, XM_047449174.1:c.11A>G, NM_001002921.1:c.167A>G, NP_037542.1:p.Gln56Arg, NP_001005353.1:p.Gln56Arg, NP_982289.1:p.Gln56Arg, NP_001317545.1:p.Gln4Arg, XP_016856102.1:p.Gln4Arg, XP_047305130.1:p.Gln4Arg

Select item 140192552519.

rs1401925525 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:65218846 (GRCh38)
1:65684529 (GRCh37)
Canonical SPDI:: NC_000001.11:65218845:A:G
Gene:: AK4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.65218846A>G, NC_000001.10:g.65684529A>G, NM_013410.4:c.358A>G, NM_013410.3:c.358A>G, NM_001005353.3:c.358A>G, NM_001005353.2:c.358A>G, NM_203464.3:c.358A>G, NM_203464.2:c.358A>G, NM_001330616.2:c.202A>G, NM_001330616.1:c.202A>G, XM_017000613.2:c.202A>G, XM_017000613.1:c.202A>G, XM_047449174.1:c.202A>G, NM_001002921.1:c.358A>G, NP_037542.1:p.Lys120Glu, NP_001005353.1:p.Lys120Glu, NP_982289.1:p.Lys120Glu, NP_001317545.1:p.Lys68Glu, XP_016856102.1:p.Lys68Glu, XP_047305130.1:p.Lys68Glu

Select item 140149936320.

rs1401499363 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:65148456 (GRCh38)
1:65614139 (GRCh37)
Canonical SPDI:: NC_000001.11:65148455:G:C
Gene:: AK4 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.65148456G>C, NC_000001.10:g.65614139G>C, NM_013410.4:c.49G>C, NM_013410.3:c.49G>C, NM_001005353.3:c.49G>C, NM_001005353.2:c.49G>C, NM_203464.3:c.49G>C, NM_203464.2:c.49G>C, NM_001002921.1:c.49G>C, NP_037542.1:p.Gly17Arg, NP_001005353.1:p.Gly17Arg, NP_982289.1:p.Gly17Arg

dbSNP

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