Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.84840436C>T , CM000677.2:g.84840436C>T | GRCh38 |
| NC_000015.9:g.85383667C>T , CM000677.1:g.85383667C>T | GRCh37 |
| NC_000015.8:g.83184671C>T | NCBI36 |
| NG_054748.1:g.28806C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258888.6:c.1157C>T MANE Select | ENSP00000258888.6:p.Thr386Ile | |
| ENST00000258888.5:c.1763C>T | ENSP00000258888.5:p.Thr588Ile | |
| NM_020778.4:c.1763C>T | NP_065829.3:p.Thr588Ile | |
| NM_020778.5:c.1157C>T MANE Select | NP_065829.4:p.Thr386Ile |