Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43169243C>A , CM000683.2:g.43169243C>A | GRCh38 |
| NG_009823.1:g.5213C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291554.6:c.144C>A MANE Select | ENSP00000291554.2:p.Tyr48Ter | |
| ENST00000482775.1:n.157C>A | ||
| NM_000394.3:c.144C>A | NP_000385.1:p.Tyr48Ter | |
| XR_001755073.1:n.647+1794G>T | ||
| NM_000394.4:c.144C>A MANE Select | NP_000385.1:p.Tyr48Ter |