HGVS | Genome Assembly |
---|---|
NC_000011.10:g.89178591T>G , CM000673.2:g.89178591T>G | GRCh38 |
NC_000011.9:g.88911759T>G , CM000673.1:g.88911759T>G | GRCh37 |
NC_000011.8:g.88551407T>G | NCBI36 |
NG_008748.1:g.5720T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000263321.6:c.638T>G MANE Select | ENSP00000263321.4:p.Leu213Arg | |
ENST00000263321.5:c.638T>G | ENSP00000263321.4:p.Leu213Arg | |
ENST00000526139.1:n.699T>G | ||
NM_000372.4:c.638T>G | NP_000363.1:p.Leu213Arg | |
XM_011542970.1:c.638T>G | XP_011541272.1:p.Leu213Arg | |
XM_011542970.2:c.638T>G | XP_011541272.1:p.Leu213Arg | |
XR_001748321.1:n.2718-65058A>C | ||
XR_001748322.1:n.2733-65058A>C | ||
NM_000372.5:c.638T>G MANE Select | NP_000363.1:p.Leu213Arg |