Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.74718943C>G , CM000667.2:g.74718943C>G | GRCh38 |
| NC_000005.9:g.74014768C>G , CM000667.1:g.74014768C>G | GRCh37 |
| NC_000005.8:g.74050524C>G | NCBI36 |
| NG_009770.1:g.38800C>G | |
| NG_009770.2:g.83921C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000521.4:c.1389C>G MANE Select | NP_000512.2:p.Tyr463Ter |
| ENST00000261416.12:c.1389C>G MANE Select | ENSP00000261416.7:p.Tyr463Ter |
| NM_000521.3:c.1389C>G | NP_000512.1:p.Tyr463Ter |
| NM_001292004.1:c.714C>G | NP_001278933.1:p.Tyr238Ter |
| NM_001292004.2:c.714C>G | NP_001278933.1:p.Tyr238Ter |
| ENST00000261416.11:c.1389C>G | ENSP00000261416.7:p.Tyr463Ter |
| ENST00000503312.5:c.265C>G | |
| ENST00000504459.5:n.586C>G | |
| ENST00000511181.5:c.714C>G | ENSP00000426285.1:p.Tyr238Ter |
| ENST00000513336.5:c.325C>G | |
| ENST00000513539.1:n.108C>G |