HGVS | Genome Assembly |
---|---|
NC_000015.10:g.80152859G>A , CM000677.2:g.80152859G>A | GRCh38 |
NC_000015.9:g.80445201G>A , CM000677.1:g.80445201G>A | GRCh37 |
NC_000015.8:g.78232256G>A | NCBI36 |
NG_012833.1:g.4861G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000558767.6:c.-196G>A | ENSP00000507680.1:n.-196G>A | |
ENST00000261755.9:c.-30+18G>A | ENSP00000261755.5:n.-30+18G>A | |
ENST00000407106.5:c.-76G>A | ENSP00000385080.1:n.-76G>A | |
ENST00000537726.5:n.53+18G>A | ||
ENST00000558022.5:c.-29-167G>A | ENSP00000453152.1:n.-29-167G>A | |
ENST00000558767.5:n.66G>A | ||
ENST00000561369.1:n.5G>A | ||
XM_024449872.1:c.-76G>A | XP_024305640.1:n.-76G>A | |
NM_001374377.1:c.-76G>A | NP_001361306.1:n.-76G>A | |
NM_001374380.1:c.-30+18G>A | NP_001361309.1:n.-30+18G>A |