Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.84840372C>A , CM000677.2:g.84840372C>A | GRCh38 |
| NC_000015.9:g.85383603C>A , CM000677.1:g.85383603C>A | GRCh37 |
| NC_000015.8:g.83184607C>A | NCBI36 |
| NG_054748.1:g.28742C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020778.5:c.1093C>A MANE Select | NP_065829.4:p.Gln365Lys |
| ENST00000258888.6:c.1093C>A MANE Select | ENSP00000258888.6:p.Gln365Lys |
| NM_020778.4:c.1699C>A | NP_065829.3:p.Gln567Lys |
| ENST00000258888.5:c.1699C>A | ENSP00000258888.5:p.Gln567Lys |