Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8013962C>A , CM000679.2:g.8013962C>A | GRCh38 |
| NC_000017.10:g.7917280C>A , CM000679.1:g.7917280C>A | GRCh37 |
| NC_000017.9:g.7858005C>A | NCBI36 |
| NG_009092.1:g.16293C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000180.4:c.2346C>A MANE Select | NP_000171.1:p.Leu782= |
| ENST00000254854.5:c.2346C>A MANE Select | ENSP00000254854.4:p.Leu782= |
| NM_000180.3:c.2346C>A | NP_000171.1:p.Leu782= |
| ENST00000254854.4:c.2346C>A | ENSP00000254854.4:p.Leu782= |
| XM_011523816.1:c.2346C>A | XP_011522118.1:p.Leu782= |