Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.2394496G>A , CM000682.2:g.2394496G>A | GRCh38 |
| NC_000020.10:g.2375142G>A , CM000682.1:g.2375142G>A | GRCh37 |
| NC_000020.9:g.2323142G>A | NCBI36 |
| NG_031917.1:g.18589G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_198994.3:c.52G>A MANE Select | NP_945345.2:p.Ala18Thr |
| ENST00000202625.7:c.52G>A MANE Select | ENSP00000202625.2:p.Ala18Thr |
| NM_001254734.1:c.52G>A | NP_001241663.1:p.Ala18Thr |
| NM_001254734.2:c.52G>A | NP_001241663.1:p.Ala18Thr |
| NM_198994.2:c.52G>A | NP_945345.2:p.Ala18Thr |
| ENST00000202625.6:c.52G>A | ENSP00000202625.2:p.Ala18Thr |
| ENST00000381423.1:c.52G>A | ENSP00000370831.1:p.Ala18Thr |
| ENST00000477505.1:n.45G>A |