HGVS | Genome Assembly |
---|---|
NC_000001.11:g.230702511T>C , CM000663.2:g.230702511T>C | GRCh38 |
NC_000001.10:g.230838257T>C , CM000663.1:g.230838257T>C | GRCh37 |
NC_000001.9:g.228904880T>C | NCBI36 |
NG_008836.1:g.17080A>G | |
NG_008836.2:g.17080A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000679738.1:c.*630A>G | ENSP00000505063.1:n.*630A>G | |
ENST00000679802.1:c.*1520A>G | ENSP00000505184.1:n.*1520A>G | |
ENST00000679854.1:n.6366A>G | ||
ENST00000680041.1:c.*630A>G | ENSP00000504866.1:n.*630A>G | |
ENST00000680783.1:c.829+7484A>G | ENSP00000506329.1:n.829+7484A>G | |
ENST00000681347.1:n.4167A>G | ||
ENST00000681514.1:c.*630A>G | ENSP00000505963.1:n.*630A>G | |
ENST00000681772.1:c.*1555A>G | ENSP00000505829.1:n.*1555A>G |