HGVS | Genome Assembly |
---|---|
NC_000011.10:g.89178592C>G , CM000673.2:g.89178592C>G | GRCh38 |
NC_000011.9:g.88911760C>G , CM000673.1:g.88911760C>G | GRCh37 |
NC_000011.8:g.88551408C>G | NCBI36 |
NG_008748.1:g.5721C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000263321.6:c.639C>G MANE Select | ENSP00000263321.4:p.Leu213= | |
ENST00000263321.5:c.639C>G | ENSP00000263321.4:p.Leu213= | |
ENST00000526139.1:n.700C>G | ||
NM_000372.4:c.639C>G | NP_000363.1:p.Leu213= | |
XM_011542970.1:c.639C>G | XP_011541272.1:p.Leu213= | |
XM_011542970.2:c.639C>G | XP_011541272.1:p.Leu213= | |
XR_001748321.1:n.2718-65059G>C | ||
XR_001748322.1:n.2733-65059G>C | ||
NM_000372.5:c.639C>G MANE Select | NP_000363.1:p.Leu213= |