Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43169309C>G , CM000683.2:g.43169309C>G | GRCh38 |
| NG_009823.1:g.5279C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291554.6:c.189+21C>G MANE Select | ENSP00000291554.2:n.189+21C>G | |
| ENST00000482775.1:n.202+21C>G | ||
| NM_000394.3:c.189+21C>G | NP_000385.1:n.189+21C>G | |
| XR_001755073.1:n.647+1728G>C | ||
| NM_000394.4:c.189+21C>G MANE Select | NP_000385.1:n.189+21C>G |