Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.84817253C>G , CM000677.2:g.84817253C>G | GRCh38 |
| NC_000015.9:g.85360484C>G , CM000677.1:g.85360484C>G | GRCh37 |
| NC_000015.8:g.83161488C>G | NCBI36 |
| NG_054748.1:g.5623C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258888.5:c.407C>G | ENSP00000258888.5:p.Ser136Cys | |
| NM_020778.4:c.407C>G | NP_065829.3:p.Ser136Cys |