Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.180660684A>T , CM000665.2:g.180660684A>T | GRCh38 |
| NC_000003.11:g.180378472A>T , CM000665.1:g.180378472A>T | GRCh37 |
| NC_000003.10:g.181861166A>T | NCBI36 |
| NG_029581.1:g.23812T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_181426.2:c.402T>A MANE Select | NP_852091.1:p.Cys134Ter |
| ENST00000476379.6:c.402T>A MANE Select | ENSP00000417960.2:p.Cys134Ter |
| NM_181426.1:c.402T>A | NP_852091.1:p.Cys134Ter |
| ENST00000442201.6:c.402T>A | ENSP00000405708.2:p.Cys134Ter |
| ENST00000476379.5:c.402T>A | ENSP00000417960.1:p.Cys134Ter |
| ENST00000650641.1:n.481T>A | |
| ENST00000650889.1:n.574T>A | |
| ENST00000651046.1:c.402T>A | ENSP00000499175.1:p.Cys134Ter |
| ENST00000651818.1:n.544T>A | |
| ENST00000652024.1:n.493T>A | |
| ENST00000652408.1:n.539T>A |