HGVS | Genome Assembly |
---|---|
NC_000001.11:g.230702424C>A , CM000663.2:g.230702424C>A | GRCh38 |
NC_000001.10:g.230838170C>A , CM000663.1:g.230838170C>A | GRCh37 |
NC_000001.9:g.228904793C>A | NCBI36 |
NG_008836.1:g.17167G>T | |
NG_008836.2:g.17167G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000679738.1:c.*717G>T | ENSP00000505063.1:n.*717G>T | |
ENST00000679802.1:c.*1607G>T | ENSP00000505184.1:n.*1607G>T | |
ENST00000679854.1:n.6453G>T | ||
ENST00000680041.1:c.*717G>T | ENSP00000504866.1:n.*717G>T | |
ENST00000680783.1:c.829+7571G>T | ENSP00000506329.1:n.829+7571G>T | |
ENST00000681347.1:n.4254G>T | ||
ENST00000681514.1:c.*717G>T | ENSP00000505963.1:n.*717G>T | |
ENST00000681772.1:c.*1642G>T | ENSP00000505829.1:n.*1642G>T |