Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74750252C>A , CM000677.2:g.74750252C>A | GRCh38 |
| NC_000015.9:g.75042593C>A , CM000677.1:g.75042593C>A | GRCh37 |
| NC_000015.8:g.72829646C>A | NCBI36 |
| NG_008431.1:g.32711C>A | |
| NG_008431.2:g.32711C>A | |
| NG_061543.1:g.6408C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343932.5:c.514C>A MANE Select | ENSP00000342007.4:p.Leu172Met | |
| ENST00000343932.4:c.514C>A | ENSP00000342007.4:p.Leu172Met | |
| NM_000761.4:c.514C>A | NP_000752.2:p.Leu172Met | |
| NM_000761.5:c.514C>A MANE Select | NP_000752.2:p.Leu172Met |