Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7501042C>T , CM000679.2:g.7501042C>T | GRCh38 |
| NC_000017.10:g.7404361C>T , CM000679.1:g.7404361C>T | GRCh37 |
| NC_000017.9:g.7345085C>T | NCBI36 |
| NG_027747.1:g.21664C>T | |
| NG_027747.2:g.21664C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000937.5:c.1984C>T MANE Select | NP_000928.1:p.His662Tyr |
| NM_000937.4:c.1984C>T | NP_000928.1:p.His662Tyr |
| ENST00000617998.4:c.1984C>T | ENSP00000480158.1:p.His662Tyr |
| ENST00000617998.6:n.2383C>T | |
| ENST00000621442.4:c.1984C>T | ENSP00000483957.1:p.His662Tyr |
| ENST00000674977.2:c.1984C>T | ENSP00000502190.2:p.His662Tyr |