Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42086183T>G , CM000684.2:g.42086183T>G | GRCh38 |
| NC_000022.10:g.42482187T>G , CM000684.1:g.42482187T>G | GRCh37 |
| NC_000022.9:g.40812133T>G | NCBI36 |
| NG_051973.1:g.9773A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002490.6:c.387A>C MANE Select | NP_002481.3:p.Ter129Cys |
| ENST00000498737.8:c.387A>C MANE Select | ENSP00000418842.3:p.Ter129Cys |
| NM_002490.3:c.465A>C | NP_002481.2:p.Ter155Cys |
| NM_002490.5:c.387A>C | NP_002481.3:p.Ter129Cys |
| ENST00000470753.1:c.216A>C | ENSP00000473478.1:p.Ter72Cys |
| ENST00000498737.6:c.465A>C | ENSP00000418842.2:p.Ter155Cys |
| ENST00000602404.5:c.387A>C | ENSP00000473461.1:p.Ter129Cys |
| ENST00000617763.1:c.465A>C | ENSP00000482543.1:p.Ter155Cys |