HGVS | Genome Assembly |
---|---|
NC_000023.11:g.48528294G>A , CM000685.2:g.48528294G>A | GRCh38 |
NC_000023.10:g.48386682G>A , CM000685.1:g.48386682G>A | GRCh37 |
NC_000023.9:g.48271626G>A | NCBI36 |
NG_007452.1:g.11519G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000495186.6:c.530G>A MANE Select | ENSP00000417052.1:p.Gly177Glu | |
ENST00000651615.1:c.469+1009G>A | ENSP00000498524.1:n.469+1009G>A | |
ENST00000276096.10:n.488G>A | ||
ENST00000495186.5:c.530G>A | ENSP00000417052.1:p.Gly177Glu | |
ENST00000498425.1:n.651G>A | ||
NM_006579.2:c.530G>A | NP_006570.1:p.Gly177Glu | |
NM_006579.3:c.530G>A MANE Select | NP_006570.1:p.Gly177Glu |