Linked Data
dbSNP Id:
rs201461807
ExAC:
10:124268175 G / A
gnomAD v2:
10-124268175-G-A
gnomAD v3:
10-122508659-G-A
gnomAD v4:
10-122508659-G-A
COSMIC:
COSM4691522
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122508659G>A , CM000672.2:g.122508659G>A | GRCh38 |
| NC_000010.10:g.124268175G>A , CM000672.1:g.124268175G>A | GRCh37 |
| NC_000010.9:g.124258165G>A | NCBI36 |
| NG_011554.1:g.52135G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.1009G>A MANE Select | ENSP00000357980.3:p.Gly337Ser | |
| ENST00000648167.1:c.691G>A | ENSP00000498033.1:p.Gly231Ser | |
| ENST00000368984.7:c.1009G>A | ENSP00000357980.3:p.Gly337Ser | |
| ENST00000420892.1:c.232G>A | ENSP00000412676.1:p.Gly78Ser | |
| NM_002775.4:c.1009G>A | NP_002766.1:p.Gly337Ser | |
| NM_002775.5:c.1009G>A MANE Select | NP_002766.1:p.Gly337Ser |