Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.151615496C>G , CM000668.2:g.151615496C>G | GRCh38 |
| NC_000006.11:g.151936631C>G , CM000668.1:g.151936631C>G | GRCh37 |
| NC_000006.10:g.151978324C>G | NCBI36 |
| NG_021198.1:g.126457C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000239374.8:c.1764C>G MANE Select | ENSP00000239374.6:p.Asp588Glu | |
| ENST00000239374.7:c.1764C>G | ENSP00000239374.6:p.Asp588Glu | |
| ENST00000537358.1:n.550C>G | ||
| NM_025059.3:c.1764C>G | NP_079335.2:p.Asp588Glu | |
| XM_011536147.1:c.1782C>G | XP_011534449.1:p.Asp594Glu | |
| XM_011536148.1:c.1581C>G | XP_011534450.1:p.Asp527Glu | |
| XM_011536147.2:c.1782C>G | XP_011534449.1:p.Asp594Glu | |
| XM_011536148.2:c.1581C>G | XP_011534450.1:p.Asp527Glu | |
| XR_001743865.1:n.129+1225G>C | ||
| NM_025059.4:c.1764C>G MANE Select | NP_079335.2:p.Asp588Glu |