Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.248324336A>G , CM000663.2:g.248324336A>G | GRCh38 |
| NC_000001.10:g.248487638A>G , CM000663.1:g.248487638A>G | GRCh37 |
| NC_000001.9:g.246554261A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001004691.1:c.233T>C MANE Select | NP_001004691.1:p.Val78Ala |
| ENST00000317965.3:c.233T>C MANE Select | ENSP00000324557.2:p.Val78Ala |