Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.106432361C>A , CM000674.2:g.106432361C>A | GRCh38 |
| NC_000012.11:g.106826139C>A , CM000674.1:g.106826139C>A | GRCh37 |
| NC_000012.10:g.105350269C>A | NCBI36 |
| NG_031837.1:g.79704C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_018082.6:c.1508C>A MANE Select | NP_060552.4:p.Thr503Lys |
| ENST00000228347.9:c.1508C>A MANE Select | ENSP00000228347.4:p.Thr503Lys |
| NM_001160708.1:c.1334C>A | NP_001154180.1:p.Thr445Lys |
| NM_001160708.2:c.1334C>A | NP_001154180.1:p.Thr445Lys |
| NM_018082.5:c.1508C>A | NP_060552.4:p.Thr503Lys |
| ENST00000228347.8:c.1508C>A | ENSP00000228347.4:p.Thr503Lys |
| ENST00000539066.5:c.1334C>A | ENSP00000445721.1:p.Thr445Lys |
| XM_017019621.2:c.1508C>A | XP_016875110.1:p.Thr503Lys |