Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52552656A>C , CM000674.2:g.52552656A>C | GRCh38 |
| NC_000012.11:g.52946440A>C , CM000674.1:g.52946440A>C | GRCh37 |
| NC_000012.10:g.51232707A>C | NCBI36 |
| NG_012426.1:g.5492T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_033448.3:c.422T>G MANE Select | NP_258259.1:p.Phe141Cys |
| ENST00000267119.6:c.422T>G MANE Select | ENSP00000267119.5:p.Phe141Cys |
| NM_033448.2:c.422T>G | NP_258259.1:p.Phe141Cys |
| ENST00000267119.5:c.422T>G | ENSP00000267119.5:p.Phe141Cys |
| XM_017018749.1:c.176T>G | XP_016874238.1:p.Phe59Cys |