HGVS | Genome Assembly |
---|---|
NC_000021.9:g.43169302C>A , CM000683.2:g.43169302C>A | GRCh38 |
NG_009823.1:g.5272C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000291554.6:c.189+14C>A MANE Select | ENSP00000291554.2:n.189+14C>A | |
ENST00000482775.1:n.202+14C>A | ||
NM_000394.3:c.189+14C>A | NP_000385.1:n.189+14C>A | |
XR_001755073.1:n.647+1735G>T | ||
NM_000394.4:c.189+14C>A MANE Select | NP_000385.1:n.189+14C>A |