Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.84839082C>T , CM000677.2:g.84839082C>T | GRCh38 |
| NC_000015.9:g.85382313C>T , CM000677.1:g.85382313C>T | GRCh37 |
| NC_000015.8:g.83183317C>T | NCBI36 |
| NG_054748.1:g.27452C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258888.6:c.407C>T MANE Select | ENSP00000258888.6:p.Thr136Ile | |
| ENST00000258888.5:c.1013C>T | ENSP00000258888.5:p.Thr338Ile | |
| NM_020778.4:c.1013C>T | NP_065829.3:p.Thr338Ile | |
| NM_020778.5:c.407C>T MANE Select | NP_065829.4:p.Thr136Ile |