Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232482435G>C , CM000664.2:g.232482435G>C | GRCh38 |
| NC_000002.11:g.233347145G>C , CM000664.1:g.233347145G>C | GRCh37 |
| NC_000002.10:g.233055389G>C | NCBI36 |
| NG_034065.1:g.10425C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004826.4:c.1779C>G MANE Select | NP_004817.2:p.Tyr593Ter |
| ENST00000304546.6:c.1779C>G MANE Select | ENSP00000302051.1:p.Tyr593Ter |
| NM_001290787.1:c.1773C>G | NP_001277716.1:p.Tyr591Ter |
| NM_001290787.2:c.1773C>G | NP_001277716.1:p.Tyr591Ter |
| NM_004826.3:c.1779C>G | NP_004817.2:p.Tyr593Ter |
| ENST00000304546.5:c.1779C>G | ENSP00000302051.1:p.Tyr593Ter |
| ENST00000409941.1:c.1773C>G | ENSP00000386333.1:p.Tyr591Ter |
| ENST00000411860.5:c.24C>G | ENSP00000412683.1:p.Tyr8Ter |
| ENST00000482346.1:n.2090C>G |