HGVS | Genome Assembly |
---|---|
NC_000012.12:g.110296666G>A , CM000674.2:g.110296666G>A | GRCh38 |
NC_000012.11:g.110734471G>A , CM000674.1:g.110734471G>A | GRCh37 |
NC_000012.10:g.109218854G>A | NCBI36 |
NG_007097.2:g.20040G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000552636.2:c.17G>A | ENSP00000447406.2:p.Arg6Gln | |
ENST00000539276.7:c.392G>A MANE Select | ENSP00000440045.2:p.Arg131Gln | |
ENST00000308664.10:c.392G>A | ENSP00000311186.6:p.Arg131Gln | |
ENST00000377685.9:c.*232G>A | ENSP00000366913.4:n.*232G>A | |
ENST00000539276.6:c.392G>A | ENSP00000440045.2:p.Arg131Gln | |
ENST00000548169.2:c.144G>A | ||
ENST00000550248.2:n.392G>A | ||
ENST00000552636.1:c.91G>A | ENSP00000447406.1:p.Asp31Asn | |
NM_001681.3:c.392G>A | NP_001672.1:p.Arg131Gln | |
NM_170665.3:c.392G>A | NP_733765.1:p.Arg131Gln | |
XM_005253888.1:c.392G>A | XP_005253945.1:p.Arg131Gln | |
XM_011538402.1:c.392G>A | XP_011536704.1:p.Arg131Gln | |
XM_011538403.1:c.392G>A | XP_011536705.1:p.Arg131Gln | |
XR_243009.1:n.398G>A | ||
XM_005253888.3:c.392G>A | XP_005253945.1:p.Arg131Gln | |
XM_011538402.3:c.392G>A | XP_011536704.1:p.Arg131Gln | |
XR_002957329.1:n.398G>A | ||
XR_243009.3:n.398G>A | ||
NM_170665.4:c.392G>A MANE Select | NP_733765.1:p.Arg131Gln | |
NM_001681.4:c.392G>A | NP_001672.1:p.Arg131Gln |