HGVS | Genome Assembly |
---|---|
NC_000011.10:g.89178192G>A , CM000673.2:g.89178192G>A | GRCh38 |
NC_000011.9:g.88911360G>A , CM000673.1:g.88911360G>A | GRCh37 |
NC_000011.8:g.88551008G>A | NCBI36 |
NG_008748.1:g.5321G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000263321.6:c.239G>A MANE Select | ENSP00000263321.4:p.Trp80Ter | |
ENST00000263321.5:c.239G>A | ENSP00000263321.4:p.Trp80Ter | |
ENST00000526139.1:n.300G>A | ||
NM_000372.4:c.239G>A | NP_000363.1:p.Trp80Ter | |
XM_011542970.1:c.239G>A | XP_011541272.1:p.Trp80Ter | |
XM_011542970.2:c.239G>A | XP_011541272.1:p.Trp80Ter | |
XR_001748321.1:n.2718-64659C>T | ||
XR_001748322.1:n.2733-64659C>T | ||
NM_000372.5:c.239G>A MANE Select | NP_000363.1:p.Trp80Ter |