Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.84840372C= , CM000677.2:g.84840372C= | GRCh38 |
| NC_000015.9:g.85383603C= , CM000677.1:g.85383603C= | GRCh37 |
| NC_000015.8:g.83184607C= | NCBI36 |
| NG_054748.1:g.28742C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020778.5:c.1093C= MANE Select | NP_065829.4:p.Gln365= |
| ENST00000258888.6:c.1093C= MANE Select | ENSP00000258888.6:p.Gln365= |
| NM_020778.4:c.1699C= | NP_065829.3:p.Gln567= |
| ENST00000258888.5:c.1699C= | ENSP00000258888.5:p.Gln567= |