Linked Data
dbSNP Id:
rs746611387
ExAC:
20:44639624 G / A
gnomAD v2:
20-44639624-G-A
gnomAD v4:
20-46010985-G-A
COSMIC:
COSM1027373
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46010985G>A , CM000682.2:g.46010985G>A | GRCh38 |
| NC_000020.10:g.44639624G>A , CM000682.1:g.44639624G>A | GRCh37 |
| NC_000020.9:g.44073031G>A | NCBI36 |
| NG_011468.1:g.7078G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372330.3:c.584G>A MANE Select | ENSP00000361405.3:p.Gly195Asp | |
| NM_004994.2:c.584G>A | NP_004985.2:p.Gly195Asp | |
| NM_004994.3:c.584G>A MANE Select | NP_004985.2:p.Gly195Asp |