Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.4911929T>G , CM000674.2:g.4911929T>G | GRCh38 |
| NC_000012.11:g.5021095T>G , CM000674.1:g.5021095T>G | GRCh37 |
| NC_000012.10:g.4891356T>G | NCBI36 |
| NG_011815.1:g.7023T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000217.3:c.551T>G MANE Select | NP_000208.2:p.Phe184Cys |
| ENST00000382545.5:c.551T>G MANE Select | ENSP00000371985.3:p.Phe184Cys |
| NM_000217.2:c.551T>G | NP_000208.2:p.Phe184Cys |
| ENST00000382545.3:c.551T>G | ENSP00000371985.3:p.Phe184Cys |
| ENST00000541095.1:n.105+1457T>G | |
| ENST00000543874.2:n.96+1457T>G | |
| ENST00000543874.3:n.105+1457T>G | |
| ENST00000639306.1:c.389T>G | ENSP00000492506.1:p.Phe130Cys |