Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43169396C>T , CM000683.2:g.43169396C>T | GRCh38 |
| NG_009823.1:g.5366C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291554.6:c.189+108C>T MANE Select | ENSP00000291554.2:n.189+108C>T | |
| ENST00000482775.1:n.202+108C>T | ||
| NM_000394.3:c.189+108C>T | NP_000385.1:n.189+108C>T | |
| XR_001755073.1:n.647+1641G>A | ||
| NM_000394.4:c.189+108C>T MANE Select | NP_000385.1:n.189+108C>T |