Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38144272T>A , CM000670.2:g.38144272T>A | GRCh38 |
| NC_000008.10:g.38001790T>A , CM000670.1:g.38001790T>A | GRCh37 |
| NC_000008.9:g.38120947T>A | NCBI36 |
| NG_011827.1:g.11811A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276449.9:c.*1A>T MANE Select | ENSP00000276449.3:n.*1A>T | |
| ENST00000276449.8:c.*1A>T | ENSP00000276449.3:n.*1A>T | |
| ENST00000520114.1:n.2828A>T | ||
| ENST00000522050.1:c.701A>T | ||
| NM_000349.2:c.*1A>T | NP_000340.2:n.*1A>T | |
| XM_006716392.1:c.765A>T | XP_006716455.1:p.Glu255Asp | |
| NM_000349.3:c.*1A>T MANE Select | NP_000340.2:n.*1A>T |