Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17382052C>A , CM000663.2:g.17382052C>A | GRCh38 |
| NC_000001.10:g.17708547C>A , CM000663.1:g.17708547C>A | GRCh37 |
| NC_000001.9:g.17581134C>A | NCBI36 |
| NG_032943.1:g.14807C>A | |
| NG_032943.2:g.14807C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000619609.1:c.639C>A MANE Select | ENSP00000483125.1:p.Ser213= | |
| NM_207421.4:c.639C>A MANE Select | NP_997304.3:p.Ser213= |