Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.84839791C>A , CM000677.2:g.84839791C>A | GRCh38 |
| NC_000015.9:g.85383022C>A , CM000677.1:g.85383022C>A | GRCh37 |
| NC_000015.8:g.83184026C>A | NCBI36 |
| NG_054748.1:g.28161C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258888.6:c.512C>A MANE Select | ENSP00000258888.6:p.Thr171Asn | |
| ENST00000258888.5:c.1118C>A | ENSP00000258888.5:p.Thr373Asn | |
| NM_020778.4:c.1118C>A | NP_065829.3:p.Thr373Asn | |
| NM_020778.5:c.512C>A MANE Select | NP_065829.4:p.Thr171Asn |