Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.55006595T>A , CM000685.2:g.55006595T>A | GRCh38 |
| NC_000023.10:g.55033028T>A , CM000685.1:g.55033028T>A | GRCh37 |
| NC_000023.9:g.55049753T>A | NCBI36 |
| NG_012568.1:g.11249T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014481.4:c.717T>A MANE Select | NP_055296.2:p.His239Gln |
| ENST00000374987.4:c.717T>A MANE Select | ENSP00000364126.3:p.His239Gln |
| NM_001271748.1:c.204T>A | NP_001258677.1:p.His68Gln |
| NM_001271748.2:c.204T>A | NP_001258677.1:p.His68Gln |
| NM_014481.3:c.717T>A | NP_055296.2:p.His239Gln |
| ENST00000374987.3:c.717T>A | ENSP00000364126.3:p.His239Gln |
| ENST00000471758.1:n.566T>A |