HGVS | Genome Assembly |
---|---|
NC_000001.11:g.160127525C>A , CM000663.2:g.160127525C>A | GRCh38 |
NC_000001.10:g.160097315C>A , CM000663.1:g.160097315C>A | GRCh37 |
NC_000001.9:g.158363939C>A | NCBI36 |
NG_008014.1:g.16768C>A , LRG_6:g.16768C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000361216.8:c.749-27C>A MANE Select | ENSP00000354490.3:n.749-27C>A | |
ENST00000361216.7:c.749-27C>A | ENSP00000354490.3:n.749-27C>A | |
ENST00000392233.7:c.749-27C>A | ENSP00000376066.3:n.749-27C>A | |
ENST00000472488.5:n.852-27C>A | ||
NM_000702.3:c.749-27C>A | NP_000693.1:n.749-27C>A | |
NM_000702.4:c.749-27C>A MANE Select | NP_000693.1:n.749-27C>A |