Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38144248A>T , CM000670.2:g.38144248A>T | GRCh38 |
| NC_000008.10:g.38001766A>T , CM000670.1:g.38001766A>T | GRCh37 |
| NC_000008.9:g.38120923A>T | NCBI36 |
| NG_011827.1:g.11835T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276449.9:c.*25T>A MANE Select | ENSP00000276449.3:n.*25T>A | |
| ENST00000276449.8:c.*25T>A | ENSP00000276449.3:n.*25T>A | |
| ENST00000520114.1:n.2852T>A | ||
| ENST00000522050.1:c.725T>A | ||
| NM_000349.2:c.*25T>A | NP_000340.2:n.*25T>A | |
| XM_006716392.1:c.789T>A | XP_006716455.1:p.Cys263Ter | |
| NM_000349.3:c.*25T>A MANE Select | NP_000340.2:n.*25T>A |