HGVS | Genome Assembly |
---|---|
NC_000018.10:g.21815725G>A , CM000680.2:g.21815725G>A | GRCh38 |
NC_000018.9:g.19395686G>A , CM000680.1:g.19395686G>A | GRCh37 |
NC_000018.8:g.17649684G>A | NCBI36 |
NG_033272.2:g.115769G>A , LRG_759:g.115769G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000261537.7:c.1589G>A MANE Select | ENSP00000261537.6:p.Arg530Gln | |
ENST00000261537.6:c.1589G>A | ENSP00000261537.6:p.Arg530Gln | |
ENST00000577749.5:n.574G>A | ||
ENST00000578260.1:n.392G>A | ||
ENST00000578646.5:n.1566G>A | ||
NM_020774.3:c.1589G>A , LRG_759t1:c.1589G>A | NP_065825.1:p.Arg530Gln | |
XM_011526098.1:c.119G>A | XP_011524400.1:p.Arg40Gln | |
XM_017025873.1:c.1073G>A | XP_016881362.1:p.Arg358Gln | |
NM_020774.4:c.1589G>A MANE Select | NP_065825.1:p.Arg530Gln |