HGVS | Genome Assembly |
---|---|
NC_000001.11:g.230702416C>T , CM000663.2:g.230702416C>T | GRCh38 |
NC_000001.10:g.230838162C>T , CM000663.1:g.230838162C>T | GRCh37 |
NC_000001.9:g.228904785C>T | NCBI36 |
NG_008836.1:g.17175G>A | |
NG_008836.2:g.17175G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000679738.1:c.*725G>A | ENSP00000505063.1:n.*725G>A | |
ENST00000679802.1:c.*1615G>A | ENSP00000505184.1:n.*1615G>A | |
ENST00000679854.1:n.6461G>A | ||
ENST00000680041.1:c.*725G>A | ENSP00000504866.1:n.*725G>A | |
ENST00000680783.1:c.829+7579G>A | ENSP00000506329.1:n.829+7579G>A | |
ENST00000681347.1:n.4262G>A | ||
ENST00000681514.1:c.*725G>A | ENSP00000505963.1:n.*725G>A | |
ENST00000681772.1:c.*1650G>A | ENSP00000505829.1:n.*1650G>A |