Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.17594310G>A , CM000672.2:g.17594310G>A | GRCh38 |
| NC_000010.10:g.17636309G>A , CM000672.1:g.17636309G>A | GRCh37 |
| NC_000010.9:g.17676315G>A | NCBI36 |
| NG_041789.1:g.28065C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014241.4:c.679C>T MANE Select | NP_055056.3:p.His227Tyr |
| ENST00000361271.8:c.679C>T MANE Select | ENSP00000355308.3:p.His227Tyr |
| NM_014241.3:c.679C>T | NP_055056.3:p.His227Tyr |
| ENST00000361271.7:c.679C>T | ENSP00000355308.3:p.His227Tyr |
| ENST00000471481.1:n.465C>T | |
| ENST00000498812.5:c.182C>T | ENSP00000462868.1:n.182C>T |
| XM_005252641.3:c.571C>T | XP_005252698.1:p.His191Tyr |
| XM_005252641.4:c.571C>T | XP_005252698.1:p.His191Tyr |
| XR_428651.2:n.848C>T | |
| XR_428651.3:n.832C>T |