Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74750233G>A , CM000677.2:g.74750233G>A | GRCh38 |
| NC_000015.9:g.75042574G>A , CM000677.1:g.75042574G>A | GRCh37 |
| NC_000015.8:g.72829627G>A | NCBI36 |
| NG_008431.1:g.32692G>A | |
| NG_008431.2:g.32692G>A | |
| NG_061543.1:g.6389G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343932.5:c.495G>A MANE Select | ENSP00000342007.4:p.Val165= | |
| ENST00000343932.4:c.495G>A | ENSP00000342007.4:p.Val165= | |
| NM_000761.4:c.495G>A | NP_000752.2:p.Val165= | |
| NM_000761.5:c.495G>A MANE Select | NP_000752.2:p.Val165= |