| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.100664788G>A , CM000685.2:g.100664788G>A | GRCh38 |
| NC_000023.10:g.99919785G>A , CM000685.1:g.99919785G>A | GRCh37 |
| NC_000023.9:g.99806441G>A | NCBI36 |
| NG_021337.1:g.25623G>A |
| HGVS | Amino-acid Change |
|---|---|
| NM_014467.3:c.370G>A MANE Select | NP_055282.1:p.Ala124Thr |
| ENST00000373004.5:c.370G>A MANE Select | ENSP00000362095.3:p.Ala124Thr |
| NM_014467.2:c.370G>A | NP_055282.1:p.Ala124Thr |
| ENST00000373004.3:c.370G>A | ENSP00000362095.3:p.Ala124Thr |
| ENST00000638319.1:n.358G>A | |
| ENST00000638458.1:c.394G>A | ENSP00000492168.1:p.Ala132Thr |
| ENST00000638920.1:n.373G>A | |
| ENST00000640889.1:c.370G>A | ENSP00000492571.1:p.Ala124Thr |
| ENST00000677630.1:n.304G>A | |
| ENST00000679590.1:n.403G>A | |
| XM_005262121.2:c.370G>A | XP_005262178.1:p.Ala124Thr |