Linked Data
dbSNP Id:
rs1801316
ExAC:
X:119005968 G / A
gnomAD v2:
X-119005968-G-A
gnomAD v3:
X-119872005-G-A
gnomAD v4:
X-119872005-G-A
COSMIC:
COSM293080
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.119872005G>A , CM000685.2:g.119872005G>A | GRCh38 |
| NC_000023.10:g.119005968G>A , CM000685.1:g.119005968G>A | GRCh37 |
| NC_000023.9:g.118889996G>A | NCBI36 |
| NG_009381.1:g.5235G>A | |
| NG_021227.1:g.4824C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371437.5:c.94G>A MANE Select | ENSP00000360492.4:p.Gly32Arg | |
| ENST00000371437.4:c.94G>A | ENSP00000360492.4:p.Gly32Arg | |
| NM_004541.3:c.94G>A | NP_004532.1:p.Gly32Arg | |
| NM_004541.4:c.94G>A MANE Select | NP_004532.1:p.Gly32Arg |