HGVS | Genome Assembly |
---|---|
NC_000005.10:g.41842690C>T , CM000667.2:g.41842690C>T | GRCh38 |
NC_000005.9:g.41842792C>T , CM000667.1:g.41842792C>T | GRCh37 |
NC_000005.8:g.41878549C>T | NCBI36 |
NG_011823.1:g.33000G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000196371.10:c.656G>A MANE Select | ENSP00000196371.5:p.Gly219Glu | |
ENST00000196371.9:c.656G>A | ENSP00000196371.5:p.Gly219Glu | |
ENST00000509987.1:c.98G>A | ENSP00000425348.1:p.Gly33Glu | |
ENST00000514723.1:n.68G>A | ||
NM_000436.3:c.656G>A | NP_000427.1:p.Gly219Glu | |
XR_427658.2:n.832G>A | ||
NM_001364299.1:c.677G>A | NP_001351228.1:p.Gly226Glu | |
NM_001364300.1:c.677G>A | NP_001351229.1:p.Gly226Glu | |
NM_001364301.1:c.656G>A | NP_001351230.1:p.Gly219Glu | |
NM_001364302.1:c.656G>A | NP_001351231.1:p.Gly219Glu | |
NM_001364303.1:c.98G>A | NP_001351232.1:p.Gly33Glu | |
NR_157114.1:n.723G>A | ||
XR_001742081.2:n.833G>A | ||
NM_000436.4:c.656G>A MANE Select | NP_000427.1:p.Gly219Glu | |
NM_001364299.2:c.677G>A | NP_001351228.1:p.Gly226Glu | |
NM_001364300.2:c.677G>A | NP_001351229.1:p.Gly226Glu | |
NM_001364301.2:c.656G>A | NP_001351230.1:p.Gly219Glu | |
NM_001364302.2:c.656G>A | NP_001351231.1:p.Gly219Glu | |
NR_157114.2:n.723G>A | ||
NM_001364303.2:c.98G>A | NP_001351232.1:p.Gly33Glu |