HGVS | Genome Assembly |
---|---|
NC_000001.11:g.230702428G>T , CM000663.2:g.230702428G>T | GRCh38 |
NC_000001.10:g.230838174G>T , CM000663.1:g.230838174G>T | GRCh37 |
NC_000001.9:g.228904797G>T | NCBI36 |
NG_008836.1:g.17163C>A | |
NG_008836.2:g.17163C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000679738.1:c.*713C>A | ENSP00000505063.1:n.*713C>A | |
ENST00000679802.1:c.*1603C>A | ENSP00000505184.1:n.*1603C>A | |
ENST00000679854.1:n.6449C>A | ||
ENST00000680041.1:c.*713C>A | ENSP00000504866.1:n.*713C>A | |
ENST00000680783.1:c.829+7567C>A | ENSP00000506329.1:n.829+7567C>A | |
ENST00000681347.1:n.4250C>A | ||
ENST00000681514.1:c.*713C>A | ENSP00000505963.1:n.*713C>A | |
ENST00000681772.1:c.*1638C>A | ENSP00000505829.1:n.*1638C>A |