Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.169487822C>G , CM000664.2:g.169487822C>G | GRCh38 |
| NC_000002.11:g.170344332C>G , CM000664.1:g.170344332C>G | GRCh37 |
| NC_000002.10:g.170052578C>G | NCBI36 |
| NG_011567.1:g.13327C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295240.8:c.225C>G MANE Select | ENSP00000295240.3:p.Cys75Trp | |
| ENST00000295240.7:c.225C>G | ENSP00000295240.3:p.Cys75Trp | |
| ENST00000392663.6:c.225C>G | ENSP00000376431.2:p.Cys75Trp | |
| ENST00000443151.1:c.143-165C>G | ENSP00000406182.1:n.143-165C>G | |
| ENST00000475571.1:n.61C>G | ||
| ENST00000513963.1:c.225C>G | ENSP00000424363.1:p.Cys75Trp | |
| NM_152384.2:c.225C>G | NP_689597.1:p.Cys75Trp | |
| NM_152384.3:c.225C>G MANE Select | NP_689597.1:p.Cys75Trp |