Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.256004T>A , CM000669.2:g.256004T>A | GRCh38 |
| NC_000007.13:g.295970T>A , CM000669.1:g.295970T>A | GRCh37 |
| NG_033970.1:g.65640T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020223.4:c.1228T>A MANE Select | NP_064608.2:p.Ser410Thr |
| ENST00000313766.6:c.1228T>A MANE Select | ENSP00000322323.5:p.Ser410Thr |
| NM_020223.3:c.1228T>A | NP_064608.2:p.Ser410Thr |
| ENST00000313766.5:c.1228T>A | ENSP00000322323.5:p.Ser410Thr |
| ENST00000515795.1:n.885T>A | |
| XM_017012450.1:c.1489T>A | XP_016867939.1:p.Ser497Thr |
| XM_017012451.1:c.1486T>A | XP_016867940.1:p.Ser496Thr |
| XM_017012455.2:c.526T>A | XP_016867944.1:p.Ser176Thr |
| XR_242097.3:n.1375T>A |