Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43169190C>T , CM000683.2:g.43169190C>T | GRCh38 |
| NG_009823.1:g.5160C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291554.6:c.91C>T MANE Select | ENSP00000291554.2:p.Leu31Phe | |
| ENST00000482775.1:n.104C>T | ||
| NM_000394.3:c.91C>T | NP_000385.1:p.Leu31Phe | |
| XR_001755073.1:n.647+1847G>A | ||
| NM_000394.4:c.91C>T MANE Select | NP_000385.1:p.Leu31Phe |