HGVS | Genome Assembly |
---|---|
NC_000011.10:g.89178301A>T , CM000673.2:g.89178301A>T | GRCh38 |
NC_000011.9:g.88911469A>T , CM000673.1:g.88911469A>T | GRCh37 |
NC_000011.8:g.88551117A>T | NCBI36 |
NG_008748.1:g.5430A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000263321.6:c.348A>T MANE Select | ENSP00000263321.4:p.Arg116= | |
ENST00000263321.5:c.348A>T | ENSP00000263321.4:p.Arg116= | |
ENST00000526139.1:n.409A>T | ||
NM_000372.4:c.348A>T | NP_000363.1:p.Arg116= | |
XM_011542970.1:c.348A>T | XP_011541272.1:p.Arg116= | |
XM_011542970.2:c.348A>T | XP_011541272.1:p.Arg116= | |
XR_001748321.1:n.2718-64768T>A | ||
XR_001748322.1:n.2733-64768T>A | ||
NM_000372.5:c.348A>T MANE Select | NP_000363.1:p.Arg116= |