Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.51003149G>A , CM000681.2:g.51003149G>A | GRCh38 |
| NC_000019.9:g.51506405G>A , CM000681.1:g.51506405G>A | GRCh37 |
| NC_000019.8:g.56198217G>A | NCBI36 |
| NG_027832.1:g.11486C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000594211.2:c.715C>T MANE Select | ENSP00000469417.1:p.His239Tyr | |
| ENST00000250366.6:c.715C>T | ENSP00000250366.5:p.His239Tyr | |
| ENST00000544410.1:c.*372C>T | ENSP00000443289.1:n.*372C>T | |
| ENST00000594211.1:c.715C>T | ENSP00000469417.1:p.His239Tyr | |
| ENST00000599166.5:c.238C>T | ENSP00000471395.1:p.His80Tyr | |
| NM_012315.1:c.715C>T | NP_036447.1:p.His239Tyr | |
| NM_012315.2:c.715C>T MANE Select | NP_036447.1:p.His239Tyr |