SNP Links for Protein (Select 1034616677) - SNP

Select item 14893559751.

rs1489355975 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:236497165 (GRCh38)
2:237405808 (GRCh37)
Canonical SPDI:: NC_000002.12:236497164:G:A
Gene:: IQCA1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000031/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.236497165G>A, NC_000002.11:g.237405808G>A, NM_024726.5:c.334C>T, NM_024726.4:c.334C>T, XM_011511865.4:c.334C>T, XM_011511865.3:c.334C>T, XM_011511865.2:c.334C>T, XM_011511865.1:c.334C>T, XM_011511864.3:c.355C>T, XM_011511864.2:c.355C>T, XM_011511864.1:c.355C>T, NR_073043.2:n.543C>T, NR_073043.1:n.602C>T, NM_001270584.2:c.334C>T, NM_001270584.1:c.334C>T, NM_001270585.2:c.355C>T, NM_001270585.1:c.355C>T, XM_011511866.2:c.355C>T, XM_011511866.1:c.355C>T, XM_017004960.2:c.355C>T, XM_017004960.1:c.355C>T, XR_007081589.1:n.387C>T, XM_047445852.1:c.334C>T, NP_079002.3:p.Pro112Ser, XP_011510167.1:p.Pro112Ser, XP_011510166.1:p.Pro119Ser, NP_001257513.1:p.Pro112Ser, NP_001257514.1:p.Pro119Ser, XP_011510168.1:p.Pro119Ser, XP_016860449.1:p.Pro119Ser, XP_047301808.1:p.Pro112Ser

Select item 14891067882.

rs1489106788 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:236465677 (GRCh38)
2:237374320 (GRCh37)
Canonical SPDI:: NC_000002.12:236465676:T:C
Gene:: IQCA1 (Varview)
Functional Consequence:: non_coding_transcript_variant,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_000002.12:g.236465677T>C, NC_000002.11:g.237374320T>C, NM_024726.5:c.754A>G, NM_024726.4:c.754A>G, XM_011511865.4:c.754A>G, XM_011511865.3:c.754A>G, XM_011511865.2:c.754A>G, XM_011511865.1:c.754A>G, XM_011511864.3:c.775A>G, XM_011511864.2:c.775A>G, XM_011511864.1:c.775A>G, NR_073043.2:n.963A>G, NR_073043.1:n.1022A>G, NM_001270584.2:c.754A>G, NM_001270584.1:c.754A>G, NM_001270585.2:c.775A>G, NM_001270585.1:c.775A>G, XM_011511866.2:c.775A>G, XM_011511866.1:c.775A>G, XM_017004960.2:c.775A>G, XM_017004960.1:c.775A>G, XR_007081589.1:n.807A>G, XM_047445852.1:c.754A>G, NP_079002.3:p.Thr252Ala, XP_011510167.1:p.Thr252Ala, XP_011510166.1:p.Thr259Ala, NP_001257513.1:p.Thr252Ala, NP_001257514.1:p.Thr259Ala, XP_011510168.1:p.Thr259Ala, XP_016860449.1:p.Thr259Ala, XP_047301808.1:p.Thr252Ala

Select item 14877173483.

rs1487717348 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:236497446 (GRCh38)
2:237406089 (GRCh37)
Canonical SPDI:: NC_000002.12:236497445:C:T
Gene:: IQCA1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.236497446C>T, NC_000002.11:g.237406089C>T, NM_024726.5:c.53G>A, NM_024726.4:c.53G>A, XM_011511865.4:c.53G>A, XM_011511865.3:c.53G>A, XM_011511865.2:c.53G>A, XM_011511865.1:c.53G>A, XM_011511864.3:c.74G>A, XM_011511864.2:c.74G>A, XM_011511864.1:c.74G>A, NR_073043.2:n.262G>A, NR_073043.1:n.321G>A, NM_001270584.2:c.53G>A, NM_001270584.1:c.53G>A, NM_001270585.2:c.74G>A, NM_001270585.1:c.74G>A, XM_011511866.2:c.74G>A, XM_011511866.1:c.74G>A, XM_017004960.2:c.74G>A, XM_017004960.1:c.74G>A, XR_007081589.1:n.106G>A, XM_047445852.1:c.53G>A, NP_079002.3:p.Gly18Asp, XP_011510167.1:p.Gly18Asp, XP_011510166.1:p.Gly25Asp, NP_001257513.1:p.Gly18Asp, NP_001257514.1:p.Gly25Asp, XP_011510168.1:p.Gly25Asp, XP_016860449.1:p.Gly25Asp, XP_047301808.1:p.Gly18Asp

Select item 14869874544.

rs1486987454 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:236486859 (GRCh38)
2:237395502 (GRCh37)
Canonical SPDI:: NC_000002.12:236486858:C:T
Gene:: IQCA1 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.236486859C>T, NC_000002.11:g.237395502C>T, NM_024726.5:c.690G>A, NM_024726.4:c.690G>A, XM_011511865.4:c.690G>A, XM_011511865.3:c.690G>A, XM_011511865.2:c.690G>A, XM_011511865.1:c.690G>A, XM_011511864.3:c.711G>A, XM_011511864.2:c.711G>A, XM_011511864.1:c.711G>A, NR_073043.2:n.899G>A, NR_073043.1:n.958G>A, NM_001270584.2:c.690G>A, NM_001270584.1:c.690G>A, NM_001270585.2:c.711G>A, NM_001270585.1:c.711G>A, XM_011511866.2:c.711G>A, XM_011511866.1:c.711G>A, XM_017004960.2:c.711G>A, XM_017004960.1:c.711G>A, XR_007081589.1:n.743G>A, XM_047445852.1:c.690G>A

Select item 14869837075.

rs1486983707 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:236331533 (GRCh38)
2:237240176 (GRCh37)
Canonical SPDI:: NC_000002.12:236331532:G:A
Gene:: IQCA1 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.236331533G>A, NC_000002.11:g.237240176G>A, NM_024726.5:c.2199C>T, NM_024726.4:c.2199C>T, XM_011511865.4:c.2202C>T, XM_011511865.3:c.2202C>T, XM_011511865.2:c.2202C>T, XM_011511865.1:c.2202C>T, XM_011511864.3:c.2220C>T, XM_011511864.2:c.2220C>T, XM_011511864.1:c.2220C>T, NR_073043.2:n.2473C>T, NR_073043.1:n.2532C>T, NM_001270584.2:c.2076C>T, NM_001270584.1:c.2076C>T, NM_001270585.2:c.2223C>T, NM_001270585.1:c.2223C>T, XM_011511866.2:c.2100C>T, XM_011511866.1:c.2100C>T, XM_017004960.2:c.2097C>T, XM_017004960.1:c.2097C>T, XR_007081589.1:n.2255C>T, XM_047445852.1:c.2079C>T

Select item 14864180026.

rs1486418002 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:236465596 (GRCh38)
2:237374239 (GRCh37)
Canonical SPDI:: NC_000002.12:236465595:C:T
Gene:: IQCA1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.236465596C>T, NC_000002.11:g.237374239C>T, NM_024726.5:c.835G>A, NM_024726.4:c.835G>A, XM_011511865.4:c.835G>A, XM_011511865.3:c.835G>A, XM_011511865.2:c.835G>A, XM_011511865.1:c.835G>A, XM_011511864.3:c.856G>A, XM_011511864.2:c.856G>A, XM_011511864.1:c.856G>A, NR_073043.2:n.1044G>A, NR_073043.1:n.1103G>A, NM_001270584.2:c.835G>A, NM_001270584.1:c.835G>A, NM_001270585.2:c.856G>A, NM_001270585.1:c.856G>A, XM_011511866.2:c.856G>A, XM_011511866.1:c.856G>A, XM_017004960.2:c.856G>A, XM_017004960.1:c.856G>A, XR_007081589.1:n.888G>A, XM_047445852.1:c.835G>A, NP_079002.3:p.Val279Ile, XP_011510167.1:p.Val279Ile, XP_011510166.1:p.Val286Ile, NP_001257513.1:p.Val279Ile, NP_001257514.1:p.Val286Ile, XP_011510168.1:p.Val286Ile, XP_016860449.1:p.Val286Ile, XP_047301808.1:p.Val279Ile

Select item 14863231437.

rs1486323143 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:236368281 (GRCh38)
2:237276924 (GRCh37)
Canonical SPDI:: NC_000002.12:236368280:T:G
Gene:: IQCA1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
G=0.000071/1 (TOMMO)
HGVS:: NC_000002.12:g.236368281T>G, NC_000002.11:g.237276924T>G, NM_024726.5:c.1582A>C, NM_024726.4:c.1582A>C, XM_011511865.4:c.1585A>C, XM_011511865.3:c.1585A>C, XM_011511865.2:c.1585A>C, XM_011511865.1:c.1585A>C, XM_011511864.3:c.1603A>C, XM_011511864.2:c.1603A>C, XM_011511864.1:c.1603A>C, NR_073043.2:n.1794A>C, NR_073043.1:n.1853A>C, NM_001270584.2:c.1459A>C, NM_001270584.1:c.1459A>C, NM_001270585.2:c.1606A>C, NM_001270585.1:c.1606A>C, XM_011511866.2:c.1483A>C, XM_011511866.1:c.1483A>C, XM_017004960.2:c.1480A>C, XM_017004960.1:c.1480A>C, XR_007081589.1:n.1638A>C, XM_047445852.1:c.1462A>C, NP_079002.3:p.Thr528Pro, XP_011510167.1:p.Thr529Pro, XP_011510166.1:p.Thr535Pro, NP_001257513.1:p.Thr487Pro, NP_001257514.1:p.Thr536Pro, XP_011510168.1:p.Thr495Pro, XP_016860449.1:p.Thr494Pro, XP_047301808.1:p.Thr488Pro

Select item 14857014158.

rs1485701415 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGA>- [Show Flanks]
Chromosome:: 2:236363849 (GRCh38)
2:237272492 (GRCh37)
Canonical SPDI:: NC_000002.12:236363843:GAGGAGGA:GAGGA
Gene:: IQCA1 (Varview)
Functional Consequence:: non_coding_transcript_variant,inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAGGA=0.000071/1 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000019/5 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.236363846GGA[1], NC_000002.11:g.237272489GGA[1], NM_024726.5:c.1800CTC[1], NM_024726.4:c.1800CTC[1], XM_011511865.4:c.1803CTC[1], XM_011511865.3:c.1803CTC[1], XM_011511865.2:c.1803CTC[1], XM_011511865.1:c.1803CTC[1], XM_011511864.3:c.1821CTC[1], XM_011511864.2:c.1821CTC[1], XM_011511864.1:c.1821CTC[1], NR_073043.2:n.2012CTC[1], NR_073043.1:n.2071CTC[1], NM_001270584.2:c.1677CTC[1], NM_001270584.1:c.1677CTC[1], NM_001270585.2:c.1824CTC[1], NM_001270585.1:c.1824CTC[1], XM_011511866.2:c.1701CTC[1], XM_011511866.1:c.1701CTC[1], XM_017004960.2:c.1698CTC[1], XM_017004960.1:c.1698CTC[1], XR_007081589.1:n.1856CTC[1], XM_047445852.1:c.1680CTC[1], NP_079002.3:p.Ser602del, XP_011510167.1:p.Ser603del, XP_011510166.1:p.Ser609del, NP_001257513.1:p.Ser561del, NP_001257514.1:p.Ser610del, XP_011510168.1:p.Ser569del, XP_016860449.1:p.Ser568del, XP_047301808.1:p.Ser562del

Select item 14841514959.

rs1484151495 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:236493770 (GRCh38)
2:237402413 (GRCh37)
Canonical SPDI:: NC_000002.12:236493769:T:C
Gene:: IQCA1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.236493770T>C, NC_000002.11:g.237402413T>C, NM_024726.5:c.454A>G, NM_024726.4:c.454A>G, XM_011511865.4:c.454A>G, XM_011511865.3:c.454A>G, XM_011511865.2:c.454A>G, XM_011511865.1:c.454A>G, XM_011511864.3:c.475A>G, XM_011511864.2:c.475A>G, XM_011511864.1:c.475A>G, NR_073043.2:n.663A>G, NR_073043.1:n.722A>G, NM_001270584.2:c.454A>G, NM_001270584.1:c.454A>G, NM_001270585.2:c.475A>G, NM_001270585.1:c.475A>G, XM_011511866.2:c.475A>G, XM_011511866.1:c.475A>G, XM_017004960.2:c.475A>G, XM_017004960.1:c.475A>G, XR_007081589.1:n.507A>G, XM_047445852.1:c.454A>G, NP_079002.3:p.Met152Val, XP_011510167.1:p.Met152Val, XP_011510166.1:p.Met159Val, NP_001257513.1:p.Met152Val, NP_001257514.1:p.Met159Val, XP_011510168.1:p.Met159Val, XP_016860449.1:p.Met159Val, XP_047301808.1:p.Met152Val

Select item 148320401910.

rs1483204019 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:236392330 (GRCh38)
2:237300973 (GRCh37)
Canonical SPDI:: NC_000002.12:236392329:C:T
Gene:: IQCA1 (Varview), IQCA1-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.236392330C>T, NC_000002.11:g.237300973C>T, NG_082889.1:g.1037C>T, NM_024726.5:c.1231G>A, NM_024726.4:c.1231G>A, XM_011511865.4:c.1231G>A, XM_011511865.3:c.1231G>A, XM_011511865.2:c.1231G>A, XM_011511865.1:c.1231G>A, XM_011511864.3:c.1252G>A, XM_011511864.2:c.1252G>A, XM_011511864.1:c.1252G>A, NR_073043.2:n.1440G>A, NR_073043.1:n.1499G>A, NM_001270584.2:c.1108G>A, NM_001270584.1:c.1108G>A, NM_001270585.2:c.1252G>A, NM_001270585.1:c.1252G>A, XM_011511866.2:c.1129G>A, XM_011511866.1:c.1129G>A, XM_017004960.2:c.1129G>A, XM_017004960.1:c.1129G>A, XR_007081589.1:n.1284G>A, XM_047445852.1:c.1108G>A, NR_174961.1:n.431C>T, NP_079002.3:p.Glu411Lys, XP_011510167.1:p.Glu411Lys, XP_011510166.1:p.Glu418Lys, NP_001257513.1:p.Glu370Lys, NP_001257514.1:p.Glu418Lys, XP_011510168.1:p.Glu377Lys, XP_016860449.1:p.Glu377Lys, XP_047301808.1:p.Glu370Lys

Select item 148155280611.

rs1481552806 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:236338308 (GRCh38)
2:237246951 (GRCh37)
Canonical SPDI:: NC_000002.12:236338307:A:G
Gene:: IQCA1 (Varview), LOC105373945 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,intron_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_000002.12:g.236338308A>G, NC_000002.11:g.237246951A>G, NM_024726.5:c.2031T>C, NM_024726.4:c.2031T>C, XM_011511865.4:c.2034T>C, XM_011511865.3:c.2034T>C, XM_011511865.2:c.2034T>C, XM_011511865.1:c.2034T>C, XM_011511864.3:c.2052T>C, XM_011511864.2:c.2052T>C, XM_011511864.1:c.2052T>C, NR_073043.2:n.2305T>C, NR_073043.1:n.2364T>C, NM_001270584.2:c.1908T>C, NM_001270584.1:c.1908T>C, NM_001270585.2:c.2055T>C, NM_001270585.1:c.2055T>C, XM_011511866.2:c.1932T>C, XM_011511866.1:c.1932T>C, XM_017004960.2:c.1929T>C, XM_017004960.1:c.1929T>C, XR_007081589.1:n.2087T>C, XM_047445852.1:c.1911T>C

Select item 148135338312.

rs1481353383 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:236338358 (GRCh38)
2:237247001 (GRCh37)
Canonical SPDI:: NC_000002.12:236338357:G:T
Gene:: IQCA1 (Varview), LOC105373945 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.236338358G>T, NC_000002.11:g.237247001G>T, NM_024726.5:c.1981C>A, NM_024726.4:c.1981C>A, XM_011511865.4:c.1984C>A, XM_011511865.3:c.1984C>A, XM_011511865.2:c.1984C>A, XM_011511865.1:c.1984C>A, XM_011511864.3:c.2002C>A, XM_011511864.2:c.2002C>A, XM_011511864.1:c.2002C>A, NR_073043.2:n.2255C>A, NR_073043.1:n.2314C>A, NM_001270584.2:c.1858C>A, NM_001270584.1:c.1858C>A, NM_001270585.2:c.2005C>A, NM_001270585.1:c.2005C>A, XM_011511866.2:c.1882C>A, XM_011511866.1:c.1882C>A, XM_017004960.2:c.1879C>A, XM_017004960.1:c.1879C>A, XR_007081589.1:n.2037C>A, XM_047445852.1:c.1861C>A, NP_079002.3:p.His661Asn, XP_011510167.1:p.His662Asn, XP_011510166.1:p.His668Asn, NP_001257513.1:p.His620Asn, NP_001257514.1:p.His669Asn, XP_011510168.1:p.His628Asn, XP_016860449.1:p.His627Asn, XP_047301808.1:p.His621Asn

Select item 148086060213.

rs1480860602 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:236465662 (GRCh38)
2:237374305 (GRCh37)
Canonical SPDI:: NC_000002.12:236465661:C:T
Gene:: IQCA1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_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_000002.12:g.236465662C>T, NC_000002.11:g.237374305C>T, NM_024726.5:c.769G>A, NM_024726.4:c.769G>A, XM_011511865.4:c.769G>A, XM_011511865.3:c.769G>A, XM_011511865.2:c.769G>A, XM_011511865.1:c.769G>A, XM_011511864.3:c.790G>A, XM_011511864.2:c.790G>A, XM_011511864.1:c.790G>A, NR_073043.2:n.978G>A, NR_073043.1:n.1037G>A, NM_001270584.2:c.769G>A, NM_001270584.1:c.769G>A, NM_001270585.2:c.790G>A, NM_001270585.1:c.790G>A, XM_011511866.2:c.790G>A, XM_011511866.1:c.790G>A, XM_017004960.2:c.790G>A, XM_017004960.1:c.790G>A, XR_007081589.1:n.822G>A, XM_047445852.1:c.769G>A, NP_079002.3:p.Glu257Lys, XP_011510167.1:p.Glu257Lys, XP_011510166.1:p.Glu264Lys, NP_001257513.1:p.Glu257Lys, NP_001257514.1:p.Glu264Lys, XP_011510168.1:p.Glu264Lys, XP_016860449.1:p.Glu264Lys, XP_047301808.1:p.Glu257Lys

Select item 148027661614.

rs1480276616 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:236497277 (GRCh38)
2:237405920 (GRCh37)
Canonical SPDI:: NC_000002.12:236497276:T:C
Gene:: IQCA1 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_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_000002.12:g.236497277T>C, NC_000002.11:g.237405920T>C, NM_024726.5:c.222A>G, NM_024726.4:c.222A>G, XM_011511865.4:c.222A>G, XM_011511865.3:c.222A>G, XM_011511865.2:c.222A>G, XM_011511865.1:c.222A>G, XM_011511864.3:c.243A>G, XM_011511864.2:c.243A>G, XM_011511864.1:c.243A>G, NR_073043.2:n.431A>G, NR_073043.1:n.490A>G, NM_001270584.2:c.222A>G, NM_001270584.1:c.222A>G, NM_001270585.2:c.243A>G, NM_001270585.1:c.243A>G, XM_011511866.2:c.243A>G, XM_011511866.1:c.243A>G, XM_017004960.2:c.243A>G, XM_017004960.1:c.243A>G, XR_007081589.1:n.275A>G, XM_047445852.1:c.222A>G

Select item 147992134615.

rs1479921346 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:236344595 (GRCh38)
2:237253238 (GRCh37)
Canonical SPDI:: NC_000002.12:236344594:T:C
Gene:: IQCA1 (Varview), LOC105373945 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.236344595T>C, NC_000002.11:g.237253238T>C, NM_024726.5:c.1918A>G, NM_024726.4:c.1918A>G, XM_011511865.4:c.1921A>G, XM_011511865.3:c.1921A>G, XM_011511865.2:c.1921A>G, XM_011511865.1:c.1921A>G, XM_011511864.3:c.1939A>G, XM_011511864.2:c.1939A>G, XM_011511864.1:c.1939A>G, XR_001739948.2:n.440T>C, NR_073043.2:n.2130A>G, NR_073043.1:n.2189A>G, NM_001270584.2:c.1795A>G, NM_001270584.1:c.1795A>G, NM_001270585.2:c.1942A>G, NM_001270585.1:c.1942A>G, XM_011511866.2:c.1819A>G, XM_011511866.1:c.1819A>G, XM_017004960.2:c.1816A>G, XM_017004960.1:c.1816A>G, XR_007081589.1:n.1974A>G, XM_047445852.1:c.1798A>G, NP_079002.3:p.Lys640Glu, XP_011510167.1:p.Lys641Glu, XP_011510166.1:p.Lys647Glu, NP_001257513.1:p.Lys599Glu, NP_001257514.1:p.Lys648Glu, XP_011510168.1:p.Lys607Glu, XP_016860449.1:p.Lys606Glu, XP_047301808.1:p.Lys600Glu

Select item 147740817016.

rs1477408170 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:236497383 (GRCh38)
2:237406026 (GRCh37)
Canonical SPDI:: NC_000002.12:236497382:A:C
Gene:: IQCA1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.236497383A>C, NC_000002.11:g.237406026A>C, NM_024726.5:c.116T>G, NM_024726.4:c.116T>G, XM_011511865.4:c.116T>G, XM_011511865.3:c.116T>G, XM_011511865.2:c.116T>G, XM_011511865.1:c.116T>G, XM_011511864.3:c.137T>G, XM_011511864.2:c.137T>G, XM_011511864.1:c.137T>G, NR_073043.2:n.325T>G, NR_073043.1:n.384T>G, NM_001270584.2:c.116T>G, NM_001270584.1:c.116T>G, NM_001270585.2:c.137T>G, NM_001270585.1:c.137T>G, XM_011511866.2:c.137T>G, XM_011511866.1:c.137T>G, XM_017004960.2:c.137T>G, XM_017004960.1:c.137T>G, XR_007081589.1:n.169T>G, XM_047445852.1:c.116T>G, NP_079002.3:p.Phe39Cys, XP_011510167.1:p.Phe39Cys, XP_011510166.1:p.Phe46Cys, NP_001257513.1:p.Phe39Cys, NP_001257514.1:p.Phe46Cys, XP_011510168.1:p.Phe46Cys, XP_016860449.1:p.Phe46Cys, XP_047301808.1:p.Phe39Cys

Select item 147704795317.

rs1477047953 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:236338227 (GRCh38)
2:237246870 (GRCh37)
Canonical SPDI:: NC_000002.12:236338226:T:C
Gene:: IQCA1 (Varview), LOC105373945 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.236338227T>C, NC_000002.11:g.237246870T>C, NM_024726.5:c.2112A>G, NM_024726.4:c.2112A>G, XM_011511865.4:c.2115A>G, XM_011511865.3:c.2115A>G, XM_011511865.2:c.2115A>G, XM_011511865.1:c.2115A>G, XM_011511864.3:c.2133A>G, XM_011511864.2:c.2133A>G, XM_011511864.1:c.2133A>G, NR_073043.2:n.2386A>G, NR_073043.1:n.2445A>G, NM_001270584.2:c.1989A>G, NM_001270584.1:c.1989A>G, NM_001270585.2:c.2136A>G, NM_001270585.1:c.2136A>G, XM_011511866.2:c.2013A>G, XM_011511866.1:c.2013A>G, XM_017004960.2:c.2010A>G, XM_017004960.1:c.2010A>G, XR_007081589.1:n.2168A>G, XM_047445852.1:c.1992A>G

Select item 147664796818.

rs1476647968 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:236331466 (GRCh38)
2:237240109 (GRCh37)
Canonical SPDI:: NC_000002.12:236331465:C:T
Gene:: IQCA1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.236331466C>T, NC_000002.11:g.237240109C>T, NM_024726.5:c.2266G>A, NM_024726.4:c.2266G>A, XM_011511865.4:c.2269G>A, XM_011511865.3:c.2269G>A, XM_011511865.2:c.2269G>A, XM_011511865.1:c.2269G>A, XM_011511864.3:c.2287G>A, XM_011511864.2:c.2287G>A, XM_011511864.1:c.2287G>A, NR_073043.2:n.2540G>A, NR_073043.1:n.2599G>A, NM_001270584.2:c.2143G>A, NM_001270584.1:c.2143G>A, NM_001270585.2:c.2290G>A, NM_001270585.1:c.2290G>A, XM_011511866.2:c.2167G>A, XM_011511866.1:c.2167G>A, XM_017004960.2:c.2164G>A, XM_017004960.1:c.2164G>A, XR_007081589.1:n.2322G>A, XM_047445852.1:c.2146G>A, NP_079002.3:p.Asp756Asn, XP_011510167.1:p.Asp757Asn, XP_011510166.1:p.Asp763Asn, NP_001257513.1:p.Asp715Asn, NP_001257514.1:p.Asp764Asn, XP_011510168.1:p.Asp723Asn, XP_016860449.1:p.Asp722Asn, XP_047301808.1:p.Asp716Asn

Select item 147595314319.

rs1475953143 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:236392252 (GRCh38)
2:237300895 (GRCh37)
Canonical SPDI:: NC_000002.12:236392251:T:C
Gene:: IQCA1 (Varview), IQCA1-AS1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
HGVS:: NC_000002.12:g.236392252T>C, NC_000002.11:g.237300895T>C, NG_082889.1:g.959T>C, NM_024726.5:c.1309A>G, NM_024726.4:c.1309A>G, XM_011511865.4:c.1309A>G, XM_011511865.3:c.1309A>G, XM_011511865.2:c.1309A>G, XM_011511865.1:c.1309A>G, XM_011511864.3:c.1330A>G, XM_011511864.2:c.1330A>G, XM_011511864.1:c.1330A>G, NR_073043.2:n.1518A>G, NR_073043.1:n.1577A>G, NM_001270584.2:c.1186A>G, NM_001270584.1:c.1186A>G, NM_001270585.2:c.1330A>G, NM_001270585.1:c.1330A>G, XM_011511866.2:c.1207A>G, XM_011511866.1:c.1207A>G, XM_017004960.2:c.1207A>G, XM_017004960.1:c.1207A>G, XR_007081589.1:n.1362A>G, XM_047445852.1:c.1186A>G, NP_079002.3:p.Arg437Gly, XP_011510167.1:p.Arg437Gly, XP_011510166.1:p.Arg444Gly, NP_001257513.1:p.Arg396Gly, NP_001257514.1:p.Arg444Gly, XP_011510168.1:p.Arg403Gly, XP_016860449.1:p.Arg403Gly, XP_047301808.1:p.Arg396Gly

Select item 147577807020.

rs1475778070 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:236486874 (GRCh38)
2:237395517 (GRCh37)
Canonical SPDI:: NC_000002.12:236486873:C:T
Gene:: IQCA1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.236486874C>T, NC_000002.11:g.237395517C>T, NM_024726.5:c.675G>A, NM_024726.4:c.675G>A, XM_011511865.4:c.675G>A, XM_011511865.3:c.675G>A, XM_011511865.2:c.675G>A, XM_011511865.1:c.675G>A, XM_011511864.3:c.696G>A, XM_011511864.2:c.696G>A, XM_011511864.1:c.696G>A, NR_073043.2:n.884G>A, NR_073043.1:n.943G>A, NM_001270584.2:c.675G>A, NM_001270584.1:c.675G>A, NM_001270585.2:c.696G>A, NM_001270585.1:c.696G>A, XM_011511866.2:c.696G>A, XM_011511866.1:c.696G>A, XM_017004960.2:c.696G>A, XM_017004960.1:c.696G>A, XR_007081589.1:n.728G>A, XM_047445852.1:c.675G>A

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Result Filters

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Custom range

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Items: 1 to 20 of 828

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