Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.84840530C>T , CM000677.2:g.84840530C>T | GRCh38 |
| NC_000015.9:g.85383761C>T , CM000677.1:g.85383761C>T | GRCh37 |
| NC_000015.8:g.83184765C>T | NCBI36 |
| NG_054748.1:g.28900C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258888.6:c.1251C>T MANE Select | ENSP00000258888.6:p.Asp417= | |
| ENST00000258888.5:c.1857C>T | ENSP00000258888.5:p.Asp619= | |
| NM_020778.4:c.1857C>T | NP_065829.3:p.Asp619= | |
| NM_020778.5:c.1251C>T MANE Select | NP_065829.4:p.Asp417= |