Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43169244C>T , CM000683.2:g.43169244C>T | GRCh38 |
| NG_009823.1:g.5214C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000394.4:c.145C>T MANE Select | NP_000385.1:p.Arg49Cys |
| ENST00000291554.6:c.145C>T MANE Select | ENSP00000291554.2:p.Arg49Cys |
| NM_000394.3:c.145C>T | NP_000385.1:p.Arg49Cys |
| ENST00000482775.1:n.158C>T | |
| XR_001755073.1:n.647+1793G>A |