Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40185626G>A , CM000677.2:g.40185626G>A | GRCh38 |
| NC_000015.9:g.40477827G>A , CM000677.1:g.40477827G>A | GRCh37 |
| NC_000015.8:g.38265119G>A | NCBI36 |
| NG_016338.1:g.29618G>A , LRG_489:g.29618G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001211.6:c.1042G>A MANE Select | NP_001202.5:p.Ala348Thr |
| ENST00000287598.11:c.1042G>A MANE Select | ENSP00000287598.7:p.Ala348Thr |
| NM_001211.5:c.1042G>A , LRG_489t1:c.1042G>A | NP_001202.4:p.Ala348Thr |
| ENST00000287598.10:c.1042G>A | ENSP00000287598.6:p.Ala348Thr |
| ENST00000412359.7:c.1084G>A | ENSP00000398470.3:p.Ala362Thr |
| ENST00000557848.1:n.301G>A | |
| ENST00000559733.5:c.170+1743G>A | |
| ENST00000559772.1:n.155G>A | |
| XR_001751506.1:n.218-5425C>T |