Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.148878451C>T , CM000665.2:g.148878451C>T | GRCh38 |
| NC_000003.11:g.148596238C>T , CM000665.1:g.148596238C>T | GRCh37 |
| NC_000003.10:g.150078928C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296046.4:c.280C>T MANE Select | ENSP00000296046.3:p.His94Tyr | |
| ENST00000296046.3:c.280C>T | ENSP00000296046.3:p.His94Tyr | |
| NM_001870.2:c.280C>T | NP_001861.2:p.His94Tyr | |
| NM_001870.3:c.280C>T | NP_001861.2:p.His94Tyr | |
| NM_001870.4:c.280C>T MANE Select | NP_001861.2:p.His94Tyr |