HGVS | Genome Assembly |
---|---|
NC_000001.11:g.230702522A>G , CM000663.2:g.230702522A>G | GRCh38 |
NC_000001.10:g.230838268A>G , CM000663.1:g.230838268A>G | GRCh37 |
NC_000001.9:g.228904891A>G | NCBI36 |
NG_008836.1:g.17069T>C | |
NG_008836.2:g.17069T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000679738.1:c.*619T>C | ENSP00000505063.1:n.*619T>C | |
ENST00000679802.1:c.*1509T>C | ENSP00000505184.1:n.*1509T>C | |
ENST00000679854.1:n.6355T>C | ||
ENST00000680041.1:c.*619T>C | ENSP00000504866.1:n.*619T>C | |
ENST00000680783.1:c.829+7473T>C | ENSP00000506329.1:n.829+7473T>C | |
ENST00000681347.1:n.4156T>C | ||
ENST00000681514.1:c.*619T>C | ENSP00000505963.1:n.*619T>C | |
ENST00000681772.1:c.*1544T>C | ENSP00000505829.1:n.*1544T>C |