Linked Data
ClinVar Variation Id:
1316040
ClinVar RCV Id:
RCV001757487
dbSNP Id:
rs201259497
ExAC:
5:33964091 C / T
gnomAD v2:
5-33964091-C-T
gnomAD v3:
5-33963986-C-T
gnomAD v4:
5-33963986-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.33963986C>T , CM000667.2:g.33963986C>T | GRCh38 |
| NC_000005.9:g.33964091C>T , CM000667.1:g.33964091C>T | GRCh37 |
| NC_000005.8:g.33999848C>T | NCBI36 |
| NG_011691.2:g.25690G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296589.9:c.593G>A MANE Select | ENSP00000296589.4:p.Gly198Asp | |
| ENST00000296589.8:c.593G>A | ENSP00000296589.4:p.Gly198Asp | |
| ENST00000382102.7:c.593G>A | ENSP00000371534.3:p.Gly198Asp | |
| ENST00000505056.1:n.395G>A | ||
| ENST00000509381.1:c.563-9482G>A | ENSP00000421100.1:n.563-9482G>A | |
| ENST00000510600.1:c.68G>A | ENSP00000424010.1:p.Gly23Asp | |
| NM_001012509.3:c.593G>A | NP_001012527.1:p.Gly198Asp | |
| NM_001297417.2:c.563-9482G>A | NP_001284346.2:n.563-9482G>A | |
| NM_016180.4:c.593G>A | NP_057264.3:p.Gly198Asp | |
| XM_011514051.1:c.191G>A | XP_011512353.1:p.Gly64Asp | |
| XM_011514052.1:c.593G>A | XP_011512354.1:p.Gly198Asp | |
| XR_925620.1:n.1410G>A | ||
| NM_016180.5:c.593G>A MANE Select | NP_057264.4:p.Gly198Asp | |
| NM_001012509.4:c.593G>A | NP_001012527.2:p.Gly198Asp | |
| NM_001297417.3:c.563-9482G>A | NP_001284346.2:n.563-9482G>A | |
| NM_001297417.4:c.563-9482G>A | NP_001284346.2:n.563-9482G>A |