HGVS | Genome Assembly |
---|---|
NC_000015.10:g.80152856C= , CM000677.2:g.80152856C= | GRCh38 |
NC_000015.9:g.80445198C= , CM000677.1:g.80445198C= | GRCh37 |
NC_000015.8:g.78232253C= | NCBI36 |
NG_012833.1:g.4858C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000558767.6:c.-199C= | ENSP00000507680.1:n.-199C= | |
ENST00000261755.9:c.-30+15C= | ENSP00000261755.5:n.-30+15C= | |
ENST00000407106.5:c.-79C= | ENSP00000385080.1:n.-79C= | |
ENST00000537726.5:n.53+15C= | ||
ENST00000558022.5:c.-29-170C= | ENSP00000453152.1:n.-29-170C= | |
ENST00000558767.5:n.63C= | ||
ENST00000561369.1:n.2C= | ||
XM_024449872.1:c.-79C= | XP_024305640.1:n.-79C= | |
NM_001374377.1:c.-79C= | NP_001361306.1:n.-79C= | |
NM_001374380.1:c.-30+15C= | NP_001361309.1:n.-30+15C= |