Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23867998A>G , CM000663.2:g.23867998A>G | GRCh38 |
| NC_000001.10:g.24194488A>G , CM000663.1:g.24194488A>G | GRCh37 |
| NC_000001.9:g.24067075A>G | NCBI36 |
| NG_013346.1:g.5372T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374479.4:c.289T>C MANE Select | ENSP00000363603.3:p.Tyr97His | |
| ENST00000374479.3:c.289T>C | ENSP00000363603.3:p.Tyr97His | |
| NM_000147.4:c.289T>C | NP_000138.2:p.Tyr97His | |
| XM_005245821.1:c.-261T>C | XP_005245878.1:n.-261T>C | |
| XM_005245821.3:c.-261T>C | XP_005245878.1:n.-261T>C | |
| NM_000147.5:c.289T>C MANE Select | NP_000138.2:p.Tyr97His | |
| NR_174379.1:n.293T>C | ||
| NR_174380.1:n.293T>C | ||
| NR_174381.1:n.293T>C | ||
| NR_174382.1:n.293T>C |