Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.32230919C>T , CM000682.2:g.32230919C>T | GRCh38 |
| NC_000020.10:g.30818722C>T , CM000682.1:g.30818722C>T | GRCh37 |
| NC_000020.9:g.30282383C>T | NCBI36 |
| NG_033906.1:g.28027C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_015352.2:c.836C>T MANE Select | NP_056167.1:p.Thr279Met |
| ENST00000375749.8:c.836C>T MANE Select | ENSP00000364902.3:p.Thr279Met |
| NM_015352.1:c.836C>T | NP_056167.1:p.Thr279Met |
| ENST00000375749.7:c.836C>T | ENSP00000364902.3:p.Thr279Met |
| ENST00000465791.1:n.351C>T | |
| ENST00000486717.5:n.721C>T | |
| ENST00000706471.1:c.*416C>T | ENSP00000516404.1:n.*416C>T |
| ENST00000706472.1:c.*403C>T | ENSP00000516405.1:n.*403C>T |
| XR_001754218.2:n.1090C>T |