HGVS | Genome Assembly |
---|---|
NC_000001.11:g.183240048G>A , CM000663.2:g.183240048G>A | GRCh38 |
NC_000001.10:g.183209183G>A , CM000663.1:g.183209183G>A | GRCh37 |
NC_000001.9:g.181475806G>A | NCBI36 |
NG_007079.2:g.58785G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264144.5:c.3078G>A MANE Select | ENSP00000264144.4:p.Gly1026= | |
ENST00000264144.4:c.3078G>A | ENSP00000264144.4:p.Gly1026= | |
ENST00000461729.1:n.548G>A | ||
ENST00000493293.5:c.3078G>A | ENSP00000432063.1:p.Gly1026= | |
NM_005562.2:c.3078G>A | NP_005553.2:p.Gly1026= | |
NM_018891.2:c.3078G>A | NP_061486.2:p.Gly1026= | |
NM_005562.3:c.3078G>A MANE Select | NP_005553.2:p.Gly1026= | |
NM_018891.3:c.3078G>A | NP_061486.2:p.Gly1026= |