Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.236064922A>G , CM000663.2:g.236064922A>G | GRCh38 |
| NC_000001.10:g.236228222A>G , CM000663.1:g.236228222A>G | GRCh37 |
| NC_000001.9:g.234294845A>G | NCBI36 |
| NG_033228.1:g.5260T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002508.3:c.158T>C MANE Select | NP_002499.2:p.Val53Ala |
| ENST00000264187.7:c.158T>C MANE Select | ENSP00000264187.6:p.Val53Ala |
| NM_002508.2:c.158T>C | NP_002499.2:p.Val53Ala |
| ENST00000264187.6:c.158T>C | ENSP00000264187.6:p.Val53Ala |
| ENST00000366595.7:c.158T>C | ENSP00000355554.3:p.Val53Ala |
| XM_011544195.1:c.158T>C | XP_011542497.1:p.Val53Ala |
| XM_011544195.3:c.158T>C | XP_011542497.1:p.Val53Ala |