Linked Data
ClinVar Variation Id:
1950812
ClinVar RCV Id:
RCV002681505
dbSNP Id:
rs776219531
ExAC:
12:132425854 G / T
gnomAD v2:
12-132425854-G-T
gnomAD v4:
12-131941309-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.131941309G>T , CM000674.2:g.131941309G>T | GRCh38 |
| NC_000012.11:g.132425854G>T , CM000674.1:g.132425854G>T | GRCh37 |
| NC_000012.10:g.130991807G>T | NCBI36 |
| NG_013039.1:g.17110G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376649.8:c.562G>T MANE Select | ENSP00000365837.3:p.Gly188Cys | |
| ENST00000322060.9:c.478G>T | ENSP00000324726.5:p.Gly160Cys | |
| ENST00000376649.7:c.562G>T | ENSP00000365837.3:p.Gly188Cys | |
| ENST00000443358.6:c.478G>T | ENSP00000392451.2:p.Gly160Cys | |
| ENST00000535067.5:c.358-2230G>T | ENSP00000443969.1:n.358-2230G>T | |
| ENST00000537484.1:c.487G>T | ENSP00000440179.1:p.Gly163Cys | |
| ENST00000542167.2:c.403G>T | ENSP00000438948.1:p.Gly135Cys | |
| ENST00000543754.1:n.383G>T | ||
| NM_001002019.2:c.478G>T | NP_001002019.1:p.Gly160Cys | |
| NM_001002020.2:c.478G>T | NP_001002020.1:p.Gly160Cys | |
| NM_025215.5:c.562G>T | NP_079491.2:p.Gly188Cys | |
| XM_011538768.1:c.163G>T | XP_011537070.1:p.Gly55Cys | |
| XM_011538768.3:c.163G>T | XP_011537070.1:p.Gly55Cys | |
| XR_001748872.1:n.1017G>T | ||
| NM_001002019.3:c.478G>T | NP_001002019.1:p.Gly160Cys | |
| NM_001002020.3:c.478G>T | NP_001002020.1:p.Gly160Cys | |
| NM_025215.6:c.562G>T MANE Select | NP_079491.2:p.Gly188Cys |