Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189062882C>A , CM000664.2:g.189062882C>A | GRCh38 |
| NC_000002.11:g.189927608C>A , CM000664.1:g.189927608C>A | GRCh37 |
| NC_000002.10:g.189635853C>A | NCBI36 |
| NG_011799.1:g.121998G>T | |
| NG_011799.2:g.121998G>T | |
| NG_011799.3:g.167420G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374866.9:c.1960G>T MANE Select | ENSP00000364000.3:p.Gly654Cys | |
| ENST00000374866.7:c.1960G>T | ENSP00000364000.3:p.Gly654Cys | |
| ENST00000470524.2:n.66G>T | ||
| ENST00000618828.1:c.799G>T | ENSP00000482184.1:p.Gly267Cys | |
| NM_000393.3:c.1960G>T | NP_000384.2:p.Gly654Cys | |
| XM_011510573.1:c.1822G>T | XP_011508875.1:p.Gly608Cys | |
| NM_000393.4:c.1960G>T | NP_000384.2:p.Gly654Cys | |
| XM_011510573.3:c.1822G>T | XP_011508875.1:p.Gly608Cys | |
| NM_000393.5:c.1960G>T MANE Select | NP_000384.2:p.Gly654Cys |