HGVS | Genome Assembly |
---|---|
NC_000001.11:g.230702446C>A , CM000663.2:g.230702446C>A | GRCh38 |
NC_000001.10:g.230838192C>A , CM000663.1:g.230838192C>A | GRCh37 |
NC_000001.9:g.228904815C>A | NCBI36 |
NG_008836.1:g.17145G>T | |
NG_008836.2:g.17145G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000679738.1:c.*695G>T | ENSP00000505063.1:n.*695G>T | |
ENST00000679802.1:c.*1585G>T | ENSP00000505184.1:n.*1585G>T | |
ENST00000679854.1:n.6431G>T | ||
ENST00000680041.1:c.*695G>T | ENSP00000504866.1:n.*695G>T | |
ENST00000680783.1:c.829+7549G>T | ENSP00000506329.1:n.829+7549G>T | |
ENST00000681347.1:n.4232G>T | ||
ENST00000681514.1:c.*695G>T | ENSP00000505963.1:n.*695G>T | |
ENST00000681772.1:c.*1620G>T | ENSP00000505829.1:n.*1620G>T |