Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35285021T>G , CM000681.2:g.35285021T>G | GRCh38 |
| NC_000019.9:g.35775924T>G , CM000681.1:g.35775924T>G | GRCh37 |
| NC_000019.8:g.40467764T>G | NCBI36 |
| NG_011563.1:g.7515T>G | |
| NG_011563.2:g.7515T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222304.5:c.234T>G MANE Select | ENSP00000222304.2:p.Cys78Trp | |
| ENST00000222304.3:c.234T>G | ENSP00000222304.2:p.Cys78Trp | |
| ENST00000593580.1:n.2505T>G | ||
| ENST00000598398.5:c.234T>G | ENSP00000471894.1:p.Cys78Trp | |
| NM_021175.2:c.234T>G | NP_066998.1:p.Cys78Trp | |
| NM_021175.3:c.234T>G | NP_066998.1:p.Cys78Trp | |
| NM_021175.4:c.234T>G MANE Select | NP_066998.1:p.Cys78Trp |