Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17270903A>G , CM000663.2:g.17270903A>G | GRCh38 |
| NC_000001.10:g.17597398A>G , CM000663.1:g.17597398A>G | GRCh37 |
| NC_000001.9:g.17469985A>G | NCBI36 |
| NG_052788.1:g.26825A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_016233.2:c.856A>G MANE Select | NP_057317.2:p.Thr286Ala |
| ENST00000375460.3:c.856A>G MANE Select | ENSP00000364609.3:p.Thr286Ala |
| XM_006710684.2:c.742A>G | XP_006710747.1:p.Thr248Ala |
| XM_011541571.1:c.742A>G | XP_011539873.1:p.Thr248Ala |
| XM_011541571.2:c.742A>G | XP_011539873.1:p.Thr248Ala |
| XM_011541572.1:c.856A>G | XP_011539874.1:p.Thr286Ala |
| XM_011541572.2:c.856A>G | XP_011539874.1:p.Thr286Ala |
| XM_017001463.1:c.319A>G | XP_016856952.1:p.Thr107Ala |