Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.180619330G>A , CM000665.2:g.180619330G>A | GRCh38 |
| NC_000003.11:g.180337118G>A , CM000665.1:g.180337118G>A | GRCh37 |
| NC_000003.10:g.181819812G>A | NCBI36 |
| NG_029581.1:g.65166C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_181426.2:c.2194C>T MANE Select | NP_852091.1:p.Gln732Ter |
| ENST00000476379.6:c.2194C>T MANE Select | ENSP00000417960.2:p.Gln732Ter |
| NM_181426.1:c.2194C>T | NP_852091.1:p.Gln732Ter |
| ENST00000442201.6:c.2194C>T | ENSP00000405708.2:p.Gln732Ter |
| ENST00000476379.5:c.*18C>T | ENSP00000417960.1:n.*18C>T |
| ENST00000650641.1:n.2081C>T | |
| ENST00000651046.1:c.2002C>T | ENSP00000499175.1:p.Gln668Ter |
| ENST00000651922.1:n.1519C>T | |
| ENST00000652010.1:n.2270C>T | |
| ENST00000652408.1:n.2331C>T |