HGVS | Genome Assembly |
---|---|
NC_000003.12:g.120633275G>C , CM000665.2:g.120633275G>C | GRCh38 |
NC_000003.11:g.120352122G>C , CM000665.1:g.120352122G>C | GRCh37 |
NC_000003.10:g.121834812G>C | NCBI36 |
NG_011957.1:g.54207C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000283871.10:c.1060C>G MANE Select | ENSP00000283871.5:p.Gln354Glu | |
ENST00000283871.9:c.1060C>G | ENSP00000283871.5:p.Gln354Glu | |
ENST00000470321.1:n.400C>G | ||
ENST00000492108.5:c.339C>G | ENSP00000419838.1:n.339C>G | |
NM_000187.3:c.1060C>G | NP_000178.2:p.Gln354Glu | |
XM_005247412.1:c.835C>G | XP_005247469.1:p.Gln279Glu | |
XM_005247412.2:c.835C>G | XP_005247469.1:p.Gln279Glu | |
XM_017006277.2:c.637C>G | XP_016861766.1:p.Gln213Glu | |
NM_000187.4:c.1060C>G MANE Select | NP_000178.2:p.Gln354Glu |