HGVS | Genome Assembly |
---|---|
NC_000001.11:g.230702501G>T , CM000663.2:g.230702501G>T | GRCh38 |
NC_000001.10:g.230838247G>T , CM000663.1:g.230838247G>T | GRCh37 |
NC_000001.9:g.228904870G>T | NCBI36 |
NG_008836.1:g.17090C>A | |
NG_008836.2:g.17090C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000679738.1:c.*640C>A | ENSP00000505063.1:n.*640C>A | |
ENST00000679802.1:c.*1530C>A | ENSP00000505184.1:n.*1530C>A | |
ENST00000679854.1:n.6376C>A | ||
ENST00000680041.1:c.*640C>A | ENSP00000504866.1:n.*640C>A | |
ENST00000680783.1:c.829+7494C>A | ENSP00000506329.1:n.829+7494C>A | |
ENST00000681347.1:n.4177C>A | ||
ENST00000681514.1:c.*640C>A | ENSP00000505963.1:n.*640C>A | |
ENST00000681772.1:c.*1565C>A | ENSP00000505829.1:n.*1565C>A |