Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.20637956G>A , CM000663.2:g.20637956G>A | GRCh38 |
| NC_000001.10:g.20964449G>A , CM000663.1:g.20964449G>A | GRCh37 |
| NC_000001.9:g.20837036G>A | NCBI36 |
| NG_008164.1:g.9502G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321556.5:c.502G>A MANE Select | ENSP00000364204.3:p.Ala168Thr | |
| ENST00000321556.4:c.502G>A | ENSP00000364204.3:p.Ala168Thr | |
| NM_032409.2:c.502G>A | NP_115785.1:p.Ala168Thr | |
| NM_032409.3:c.502G>A MANE Select | NP_115785.1:p.Ala168Thr |