Linked Data
dbSNP Id:
rs376574386
ExAC:
1:182555227 C / T
gnomAD v2:
1-182555227-C-T
gnomAD v3:
1-182586092-C-T
gnomAD v4:
1-182586092-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.182586092C>T , CM000663.2:g.182586092C>T | GRCh38 |
| NC_000001.10:g.182555227C>T , CM000663.1:g.182555227C>T | GRCh37 |
| NC_000001.9:g.180821850C>T | NCBI36 |
| NG_009024.2:g.5882G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367559.7:c.715G>A MANE Select | ENSP00000356530.3:p.Gly239Arg | |
| ENST00000539397.1:c.715G>A | ENSP00000440844.1:p.Gly239Arg | |
| NM_021133.3:c.715G>A | NP_066956.1:p.Gly239Arg | |
| XM_005245411.2:c.715G>A | XP_005245468.1:p.Gly239Arg | |
| XR_001737359.1:n.998G>A | ||
| XR_001737360.1:n.998G>A | ||
| NM_021133.4:c.715G>A MANE Select | NP_066956.1:p.Gly239Arg |