Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89776874G>A , CM000677.2:g.89776874G>A | GRCh38 |
| NC_000015.9:g.90320105G>A , CM000677.1:g.90320105G>A | GRCh37 |
| NC_000015.8:g.88121109G>A | NCBI36 |
| NG_008608.1:g.5517G>A | |
| NG_008608.2:g.21284G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001039958.2:c.517G>A MANE Select | NP_001035047.1:p.Ala173Thr |
| ENST00000341735.5:c.517G>A MANE Select | ENSP00000342392.3:p.Ala173Thr |
| NM_001039958.1:c.517G>A | NP_001035047.1:p.Ala173Thr |
| ENST00000341735.3:c.517G>A | ENSP00000342392.3:p.Ala173Thr |
| ENST00000558723.1:n.39-1191G>A | |
| ENST00000560219.2:c.31-1191G>A | ENSP00000452998.1:n.31-1191G>A |