Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49950963G>A , CM000674.2:g.49950963G>A | GRCh38 |
| NC_000012.11:g.50344746G>A , CM000674.1:g.50344746G>A | GRCh37 |
| NC_000012.10:g.48631013G>A | NCBI36 |
| NG_008913.1:g.5223G>A , LRG_717:g.5223G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000199280.4:c.133G>A MANE Select | ENSP00000199280.3:p.Ala45Thr | |
| ENST00000199280.3:c.133G>A | ENSP00000199280.3:p.Ala45Thr | |
| ENST00000550862.1:c.133G>A | ENSP00000450022.1:p.Ala45Thr | |
| ENST00000551526.5:c.133G>A | ENSP00000447148.1:p.Ala45Thr | |
| NM_000486.5:c.133G>A , LRG_717t1:c.133G>A | NP_000477.1:p.Ala45Thr | |
| NM_000486.6:c.133G>A MANE Select | NP_000477.1:p.Ala45Thr |