Linked Data
dbSNP Id:
rs753137381
ExAC:
20:60503265 G / A
gnomAD v2:
20-60503265-G-A
gnomAD v3:
20-61928207-G-A
gnomAD v4:
20-61928207-G-A
COSMIC:
COSM5755624
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.61928207G>A , CM000682.2:g.61928207G>A | GRCh38 |
| NC_000020.10:g.60503265G>A , CM000682.1:g.60503265G>A | GRCh37 |
| NC_000020.9:g.59936660G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614565.5:c.1789G>A MANE Select | ENSP00000484928.1:p.Gly597Ser | |
| ENST00000543233.2:c.1567G>A | ENSP00000443301.1:p.Gly523Ser | |
| ENST00000611855.4:c.1507G>A | ENSP00000480844.1:p.Gly503Ser | |
| ENST00000614565.4:c.1789G>A | ENSP00000484928.1:p.Gly597Ser | |
| NM_001252338.2:c.1678G>A | NP_001239267.1:p.Gly560Ser | |
| NM_001252339.2:c.1567G>A | NP_001239268.1:p.Gly523Ser | |
| NM_001794.4:c.1789G>A | NP_001785.2:p.Gly597Ser | |
| NM_001794.5:c.1789G>A MANE Select | NP_001785.2:p.Gly597Ser | |
| NM_001252339.3:c.1567G>A | NP_001239268.1:p.Gly523Ser |