Linked Data
ClinVar Variation Id:
259112
dbSNP Id:
rs3204145
ExAC:
9:111651620 A / T
gnomAD v2:
9-111651620-A-T
gnomAD v3:
9-108889340-A-T
gnomAD v4:
9-108889340-A-T
COSMIC:
COSM3763505
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.108889340A>T , CM000671.2:g.108889340A>T | GRCh38 |
| NC_000009.11:g.111651620A>T , CM000671.1:g.111651620A>T | GRCh37 |
| NC_000009.10:g.110691441A>T | NCBI36 |
| NG_008788.1:g.49989T>A , LRG_251:g.49989T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374647.10:c.3214T>A MANE Select | ENSP00000363779.5:p.Cys1072Ser | |
| ENST00000495759.6:c.*1824T>A | ENSP00000433514.2:n.*1824T>A | |
| ENST00000674535.1:c.3214T>A | ENSP00000502142.1:p.Cys1072Ser | |
| ENST00000674704.1:n.6299T>A | ||
| ENST00000674836.1:n.3827T>A | ||
| ENST00000674890.1:c.*449T>A | ENSP00000501870.1:n.*449T>A | |
| ENST00000674938.1:c.2872T>A | ENSP00000502427.1:p.Cys958Ser | |
| ENST00000674948.1:c.2872T>A | ENSP00000501602.1:p.Cys958Ser | |
| ENST00000675052.1:c.3214T>A | ENSP00000502664.1:p.Cys1072Ser | |
| ENST00000675078.1:c.3214T>A | ENSP00000501549.1:p.Cys1072Ser | |
| ENST00000675215.1:c.*2438T>A | ENSP00000502558.1:n.*2438T>A | |
| ENST00000675233.1:n.5041T>A | ||
| ENST00000675321.1:c.3214T>A | ENSP00000502751.1:p.Cys1072Ser | |
| ENST00000675325.1:n.5171T>A | ||
| ENST00000675335.1:c.3245T>A | ENSP00000502182.1:n.3245T>A | |
| ENST00000675400.1:n.4949T>A | ||
| ENST00000675406.1:c.3214T>A | ENSP00000501893.1:p.Cys1072Ser | |
| ENST00000675458.1:c.3307T>A | ENSP00000501754.1:n.3307T>A | |
| ENST00000675507.1:n.5010T>A | ||
| ENST00000675535.1:c.*841T>A | ENSP00000501667.1:n.*841T>A | |
| ENST00000675566.1:n.5072T>A | ||
| ENST00000675602.1:n.6262T>A | ||
| ENST00000675647.1:n.4378T>A | ||
| ENST00000675711.1:c.3214T>A | ENSP00000502485.1:p.Cys1072Ser | |
| ENST00000675727.1:c.3214T>A | ENSP00000501722.1:p.Cys1072Ser | |
| ENST00000675748.1:n.4848T>A | ||
| ENST00000675765.1:c.*597T>A | ENSP00000502640.1:n.*597T>A | |
| ENST00000675825.1:c.3214T>A | ENSP00000502632.1:p.Cys1072Ser | |
| ENST00000675877.1:n.3519T>A | ||
| ENST00000675893.1:c.*4283T>A | ENSP00000502001.1:n.*4283T>A | |
| ENST00000675943.1:n.6829T>A | ||
| ENST00000675979.1:c.*2457T>A | ENSP00000502208.1:n.*2457T>A | |
| ENST00000676044.1:c.*874T>A | ENSP00000502378.1:n.*874T>A | |
| ENST00000676086.1:n.4999T>A | ||
| ENST00000676121.1:n.5042T>A | ||
| ENST00000676237.1:c.3115T>A | ENSP00000501828.1:p.Cys1039Ser | |
| ENST00000676416.1:c.2872T>A | ENSP00000501660.1:p.Cys958Ser | |
| ENST00000676424.1:n.5010T>A | ||
| ENST00000676429.1:n.7683T>A | ||
| ENST00000374647.9:c.3214T>A | ENSP00000363779.5:p.Cys1072Ser | |
| ENST00000467959.1:n.94T>A | ||
| ENST00000495759.5:c.354T>A | ||
| ENST00000537196.1:c.2167T>A | ENSP00000439367.1:p.Cys723Ser | |
| NM_003640.3:c.3214T>A , LRG_251t1:c.3214T>A | NP_003631.2:p.Cys1072Ser | |
| XM_005252285.2:c.2872T>A | XP_005252342.1:p.Cys958Ser | |
| XM_011519136.1:c.3214T>A | XP_011517438.1:p.Cys1072Ser | |
| XM_011519137.1:c.2872T>A | XP_011517439.1:p.Cys958Ser | |
| NM_001318360.1:c.2872T>A | NP_001305289.1:p.Cys958Ser | |
| NM_001330749.1:c.2167T>A | NP_001317678.1:p.Cys723Ser | |
| NM_003640.4:c.3214T>A | NP_003631.2:p.Cys1072Ser | |
| XM_011519136.2:c.3214T>A | XP_011517438.1:p.Cys1072Ser | |
| XR_929859.3:n.3603T>A | ||
| NM_003640.5:c.3214T>A MANE Select | NP_003631.2:p.Cys1072Ser | |
| NM_001318360.2:c.2872T>A | NP_001305289.1:p.Cys958Ser | |
| NM_001330749.2:c.2167T>A | NP_001317678.1:p.Cys723Ser |