HGVS | Genome Assembly |
---|---|
NC_000001.11:g.230702450G>A , CM000663.2:g.230702450G>A | GRCh38 |
NC_000001.10:g.230838196G>A , CM000663.1:g.230838196G>A | GRCh37 |
NC_000001.9:g.228904819G>A | NCBI36 |
NG_008836.1:g.17141C>T | |
NG_008836.2:g.17141C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000679738.1:c.*691C>T | ENSP00000505063.1:n.*691C>T | |
ENST00000679802.1:c.*1581C>T | ENSP00000505184.1:n.*1581C>T | |
ENST00000679854.1:n.6427C>T | ||
ENST00000680041.1:c.*691C>T | ENSP00000504866.1:n.*691C>T | |
ENST00000680783.1:c.829+7545C>T | ENSP00000506329.1:n.829+7545C>T | |
ENST00000681347.1:n.4228C>T | ||
ENST00000681514.1:c.*691C>T | ENSP00000505963.1:n.*691C>T | |
ENST00000681772.1:c.*1616C>T | ENSP00000505829.1:n.*1616C>T |