Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38144264G>T , CM000670.2:g.38144264G>T | GRCh38 |
| NC_000008.10:g.38001782G>T , CM000670.1:g.38001782G>T | GRCh37 |
| NC_000008.9:g.38120939G>T | NCBI36 |
| NG_011827.1:g.11819C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276449.9:c.*9C>A MANE Select | ENSP00000276449.3:n.*9C>A | |
| ENST00000276449.8:c.*9C>A | ENSP00000276449.3:n.*9C>A | |
| ENST00000520114.1:n.2836C>A | ||
| ENST00000522050.1:c.709C>A | ||
| NM_000349.2:c.*9C>A | NP_000340.2:n.*9C>A | |
| XM_006716392.1:c.773C>A | XP_006716455.1:p.Pro258His | |
| NM_000349.3:c.*9C>A MANE Select | NP_000340.2:n.*9C>A |