HGVS | Genome Assembly |
---|---|
NC_000023.11:g.48528297A>G , CM000685.2:g.48528297A>G | GRCh38 |
NC_000023.10:g.48386685A>G , CM000685.1:g.48386685A>G | GRCh37 |
NC_000023.9:g.48271629A>G | NCBI36 |
NG_007452.1:g.11522A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000495186.6:c.533A>G MANE Select | ENSP00000417052.1:p.Glu178Gly | |
ENST00000651615.1:c.469+1012A>G | ENSP00000498524.1:n.469+1012A>G | |
ENST00000276096.10:n.491A>G | ||
ENST00000495186.5:c.533A>G | ENSP00000417052.1:p.Glu178Gly | |
ENST00000498425.1:n.654A>G | ||
NM_006579.2:c.533A>G | NP_006570.1:p.Glu178Gly | |
NM_006579.3:c.533A>G MANE Select | NP_006570.1:p.Glu178Gly |