Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.84840586C>A , CM000677.2:g.84840586C>A | GRCh38 |
| NC_000015.9:g.85383817C>A , CM000677.1:g.85383817C>A | GRCh37 |
| NC_000015.8:g.83184821C>A | NCBI36 |
| NG_054748.1:g.28956C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258888.6:c.1307C>A MANE Select | ENSP00000258888.6:p.Thr436Asn | |
| ENST00000258888.5:c.1913C>A | ENSP00000258888.5:p.Thr638Asn | |
| NM_020778.4:c.1913C>A | NP_065829.3:p.Thr638Asn | |
| NM_020778.5:c.1307C>A MANE Select | NP_065829.4:p.Thr436Asn |