Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38144258A>T , CM000670.2:g.38144258A>T | GRCh38 |
| NC_000008.10:g.38001776A>T , CM000670.1:g.38001776A>T | GRCh37 |
| NC_000008.9:g.38120933A>T | NCBI36 |
| NG_011827.1:g.11825T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276449.9:c.*15T>A MANE Select | ENSP00000276449.3:n.*15T>A | |
| ENST00000276449.8:c.*15T>A | ENSP00000276449.3:n.*15T>A | |
| ENST00000520114.1:n.2842T>A | ||
| ENST00000522050.1:c.715T>A | ||
| NM_000349.2:c.*15T>A | NP_000340.2:n.*15T>A | |
| XM_006716392.1:c.779T>A | XP_006716455.1:p.Val260Asp | |
| NM_000349.3:c.*15T>A MANE Select | NP_000340.2:n.*15T>A |