HGVS | Genome Assembly |
---|---|
NC_000001.11:g.183232039C>A , CM000663.2:g.183232039C>A | GRCh38 |
NC_000001.10:g.183201174C>A , CM000663.1:g.183201174C>A | GRCh37 |
NC_000001.9:g.181467797C>A | NCBI36 |
NG_007079.2:g.50776C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264144.5:c.1858-148C>A MANE Select | ENSP00000264144.4:n.1858-148C>A | |
ENST00000264144.4:c.1858-148C>A | ENSP00000264144.4:n.1858-148C>A | |
ENST00000493293.5:c.1858-148C>A | ENSP00000432063.1:n.1858-148C>A | |
NM_005562.2:c.1858-148C>A | NP_005553.2:n.1858-148C>A | |
NM_018891.2:c.1858-148C>A | NP_061486.2:n.1858-148C>A | |
XM_017001273.2:c.1858-148C>A | XP_016856762.1:n.1858-148C>A | |
NM_005562.3:c.1858-148C>A MANE Select | NP_005553.2:n.1858-148C>A | |
NM_018891.3:c.1858-148C>A | NP_061486.2:n.1858-148C>A |