Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38144267T>A , CM000670.2:g.38144267T>A | GRCh38 |
| NC_000008.10:g.38001785T>A , CM000670.1:g.38001785T>A | GRCh37 |
| NC_000008.9:g.38120942T>A | NCBI36 |
| NG_011827.1:g.11816A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276449.9:c.*6A>T MANE Select | ENSP00000276449.3:n.*6A>T | |
| ENST00000276449.8:c.*6A>T | ENSP00000276449.3:n.*6A>T | |
| ENST00000520114.1:n.2833A>T | ||
| ENST00000522050.1:c.706A>T | ||
| NM_000349.2:c.*6A>T | NP_000340.2:n.*6A>T | |
| XM_006716392.1:c.770A>T | XP_006716455.1:p.Gln257Leu | |
| NM_000349.3:c.*6A>T MANE Select | NP_000340.2:n.*6A>T |