Linked Data
dbSNP Id:
rs201461807
ExAC:
10:124268175 G / T
gnomAD v2:
10-124268175-G-T
gnomAD v3:
10-122508659-G-T
gnomAD v4:
10-122508659-G-T
COSMIC:
COSM1730965
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122508659G>T , CM000672.2:g.122508659G>T | GRCh38 |
| NC_000010.10:g.124268175G>T , CM000672.1:g.124268175G>T | GRCh37 |
| NC_000010.9:g.124258165G>T | NCBI36 |
| NG_011554.1:g.52135G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.1009G>T MANE Select | ENSP00000357980.3:p.Gly337Cys | |
| ENST00000648167.1:c.691G>T | ENSP00000498033.1:p.Gly231Cys | |
| ENST00000368984.7:c.1009G>T | ENSP00000357980.3:p.Gly337Cys | |
| ENST00000420892.1:c.232G>T | ENSP00000412676.1:p.Gly78Cys | |
| NM_002775.4:c.1009G>T | NP_002766.1:p.Gly337Cys | |
| NM_002775.5:c.1009G>T MANE Select | NP_002766.1:p.Gly337Cys |