Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.185145041T>G , CM000666.2:g.185145041T>G | GRCh38 |
| NC_000004.11:g.186066195T>G , CM000666.1:g.186066195T>G | GRCh37 |
| NC_000004.10:g.186303189T>G | NCBI36 |
| NG_013001.1:g.6779T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281456.11:c.389T>G MANE Select | ENSP00000281456.5:p.Phe130Cys | |
| ENST00000281456.10:c.389T>G | ENSP00000281456.5:p.Phe130Cys | |
| ENST00000491736.1:c.389T>G | ENSP00000476711.1:p.Phe130Cys | |
| NM_001151.3:c.389T>G | NP_001142.2:p.Phe130Cys | |
| NM_001151.4:c.389T>G MANE Select | NP_001142.2:p.Phe130Cys |