Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.84840176C= , CM000677.2:g.84840176C= | GRCh38 |
| NC_000015.9:g.85383407C= , CM000677.1:g.85383407C= | GRCh37 |
| NC_000015.8:g.83184411C= | NCBI36 |
| NG_054748.1:g.28546C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258888.6:c.897C= MANE Select | ENSP00000258888.6:p.Ala299= | |
| ENST00000258888.5:c.1503C= | ENSP00000258888.5:p.Ala501= | |
| NM_020778.4:c.1503C= | NP_065829.3:p.Ala501= | |
| NM_020778.5:c.897C= MANE Select | NP_065829.4:p.Ala299= |