HGVS | Genome Assembly |
---|---|
NC_000001.11:g.230702493A>G , CM000663.2:g.230702493A>G | GRCh38 |
NC_000001.10:g.230838239A>G , CM000663.1:g.230838239A>G | GRCh37 |
NC_000001.9:g.228904862A>G | NCBI36 |
NG_008836.1:g.17098T>C | |
NG_008836.2:g.17098T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000679738.1:c.*648T>C | ENSP00000505063.1:n.*648T>C | |
ENST00000679802.1:c.*1538T>C | ENSP00000505184.1:n.*1538T>C | |
ENST00000679854.1:n.6384T>C | ||
ENST00000680041.1:c.*648T>C | ENSP00000504866.1:n.*648T>C | |
ENST00000680783.1:c.829+7502T>C | ENSP00000506329.1:n.829+7502T>C | |
ENST00000681347.1:n.4185T>C | ||
ENST00000681514.1:c.*648T>C | ENSP00000505963.1:n.*648T>C | |
ENST00000681772.1:c.*1573T>C | ENSP00000505829.1:n.*1573T>C |