HGVS | Genome Assembly |
---|---|
NC_000021.9:g.43169069C>A , CM000683.2:g.43169069C>A | GRCh38 |
NG_009823.1:g.5039C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000291554.6:c.-31C>A MANE Select | ENSP00000291554.2:n.-31C>A | |
NM_000394.3:c.-31C>A | NP_000385.1:n.-31C>A | |
XR_001755073.1:n.647+1968G>T | ||
NM_000394.4:c.-31C>A MANE Select | NP_000385.1:n.-31C>A |