Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43169245G>T , CM000683.2:g.43169245G>T | GRCh38 |
| NG_009823.1:g.5215G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291554.6:c.146G>T MANE Select | ENSP00000291554.2:p.Arg49Leu | |
| ENST00000482775.1:n.159G>T | ||
| NM_000394.3:c.146G>T | NP_000385.1:p.Arg49Leu | |
| XR_001755073.1:n.647+1792C>A | ||
| NM_000394.4:c.146G>T MANE Select | NP_000385.1:p.Arg49Leu |