Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.84817147G>C , CM000677.2:g.84817147G>C | GRCh38 |
| NC_000015.9:g.85360378G>C , CM000677.1:g.85360378G>C | GRCh37 |
| NC_000015.8:g.83161382G>C | NCBI36 |
| NG_054748.1:g.5517G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258888.5:c.301G>C | ENSP00000258888.5:p.Gly101Arg | |
| NM_020778.4:c.301G>C | NP_065829.3:p.Gly101Arg |