HGVS | Genome Assembly |
---|---|
NC_000015.10:g.80152857A>G , CM000677.2:g.80152857A>G | GRCh38 |
NC_000015.9:g.80445199A>G , CM000677.1:g.80445199A>G | GRCh37 |
NC_000015.8:g.78232254A>G | NCBI36 |
NG_012833.1:g.4859A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000558767.6:c.-198A>G | ENSP00000507680.1:n.-198A>G | |
ENST00000261755.9:c.-30+16A>G | ENSP00000261755.5:n.-30+16A>G | |
ENST00000407106.5:c.-78A>G | ENSP00000385080.1:n.-78A>G | |
ENST00000537726.5:n.53+16A>G | ||
ENST00000558022.5:c.-29-169A>G | ENSP00000453152.1:n.-29-169A>G | |
ENST00000558767.5:n.64A>G | ||
ENST00000561369.1:n.3A>G | ||
XM_024449872.1:c.-78A>G | XP_024305640.1:n.-78A>G | |
NM_001374377.1:c.-78A>G | NP_001361306.1:n.-78A>G | |
NM_001374380.1:c.-30+16A>G | NP_001361309.1:n.-30+16A>G |