HGVS | Genome Assembly |
---|---|
NC_000001.11:g.230702520A>C , CM000663.2:g.230702520A>C | GRCh38 |
NC_000001.10:g.230838266A>C , CM000663.1:g.230838266A>C | GRCh37 |
NC_000001.9:g.228904889A>C | NCBI36 |
NG_008836.1:g.17071T>G | |
NG_008836.2:g.17071T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000679738.1:c.*621T>G | ENSP00000505063.1:n.*621T>G | |
ENST00000679802.1:c.*1511T>G | ENSP00000505184.1:n.*1511T>G | |
ENST00000679854.1:n.6357T>G | ||
ENST00000680041.1:c.*621T>G | ENSP00000504866.1:n.*621T>G | |
ENST00000680783.1:c.829+7475T>G | ENSP00000506329.1:n.829+7475T>G | |
ENST00000681347.1:n.4158T>G | ||
ENST00000681514.1:c.*621T>G | ENSP00000505963.1:n.*621T>G | |
ENST00000681772.1:c.*1546T>G | ENSP00000505829.1:n.*1546T>G |