HGVS | Genome Assembly |
---|---|
NC_000011.10:g.89178302C>A , CM000673.2:g.89178302C>A | GRCh38 |
NC_000011.9:g.88911470C>A , CM000673.1:g.88911470C>A | GRCh37 |
NC_000011.8:g.88551118C>A | NCBI36 |
NG_008748.1:g.5431C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000263321.6:c.349C>A MANE Select | ENSP00000263321.4:p.Leu117Ile | |
ENST00000263321.5:c.349C>A | ENSP00000263321.4:p.Leu117Ile | |
ENST00000526139.1:n.410C>A | ||
NM_000372.4:c.349C>A | NP_000363.1:p.Leu117Ile | |
XM_011542970.1:c.349C>A | XP_011541272.1:p.Leu117Ile | |
XM_011542970.2:c.349C>A | XP_011541272.1:p.Leu117Ile | |
XR_001748321.1:n.2718-64769G>T | ||
XR_001748322.1:n.2733-64769G>T | ||
NM_000372.5:c.349C>A MANE Select | NP_000363.1:p.Leu117Ile |