Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.48527176C>G , CM000685.2:g.48527176C>G | GRCh38 |
| NC_000023.10:g.48385564C>G , CM000685.1:g.48385564C>G | GRCh37 |
| NC_000023.9:g.48270508C>G | NCBI36 |
| NG_007452.1:g.10401C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000495186.6:c.360C>G MANE Select | ENSP00000417052.1:p.Cys120Trp | |
| ENST00000651615.1:c.360C>G | ENSP00000498524.1:p.Cys120Trp | |
| ENST00000276096.10:n.318C>G | ||
| ENST00000414061.1:c.360C>G | ENSP00000405832.1:p.Cys120Trp | |
| ENST00000446158.5:c.360C>G | ENSP00000390031.1:p.Cys120Trp | |
| ENST00000466461.1:n.199C>G | ||
| ENST00000495186.5:c.360C>G | ENSP00000417052.1:p.Cys120Trp | |
| ENST00000498425.1:n.481C>G | ||
| NM_006579.2:c.360C>G | NP_006570.1:p.Cys120Trp | |
| NM_006579.3:c.360C>G MANE Select | NP_006570.1:p.Cys120Trp |