Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.84840541A= , CM000677.2:g.84840541A= | GRCh38 |
| NC_000015.9:g.85383772A= , CM000677.1:g.85383772A= | GRCh37 |
| NC_000015.8:g.83184776A= | NCBI36 |
| NG_054748.1:g.28911A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258888.6:c.1262A= MANE Select | ENSP00000258888.6:p.Glu421= | |
| ENST00000258888.5:c.1868A= | ENSP00000258888.5:p.Glu623= | |
| NM_020778.4:c.1868A= | NP_065829.3:p.Glu623= | |
| NM_020778.5:c.1262A= MANE Select | NP_065829.4:p.Glu421= |