Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.84840114G= , CM000677.2:g.84840114G= | GRCh38 |
| NC_000015.9:g.85383345G= , CM000677.1:g.85383345G= | GRCh37 |
| NC_000015.8:g.83184349G= | NCBI36 |
| NG_054748.1:g.28484G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020778.5:c.835G= MANE Select | NP_065829.4:p.Glu279= |
| ENST00000258888.6:c.835G= MANE Select | ENSP00000258888.6:p.Glu279= |
| NM_020778.4:c.1441G= | NP_065829.3:p.Glu481= |
| ENST00000258888.5:c.1441G= | ENSP00000258888.5:p.Glu481= |