HGVS | Genome Assembly |
---|---|
NC_000020.11:g.44651914G>A , CM000682.2:g.44651914G>A | GRCh38 |
NC_000020.10:g.43280555G>A , CM000682.1:g.43280555G>A | GRCh37 |
NC_000020.9:g.42713969G>A | NCBI36 |
NG_007385.1:g.4822C>T , LRG_16:g.4822C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000536076.2:c.-133C>T | ENSP00000512234.1:n.-133C>T | |
ENST00000696039.1:n.309C>T | ||
ENST00000696062.1:c.96+186C>T | ENSP00000512365.1:n.96+186C>T | |
ENST00000696064.1:c.-130C>T | ENSP00000512367.1:n.-130C>T | |
ENST00000696065.1:c.-133C>T | ENSP00000512368.1:n.-133C>T | |
ENST00000535573.1:n.320C>T | ||
ENST00000536076.1:n.201C>T | ||
XM_011528479.1:c.-269C>T | XP_011526781.1:n.-269C>T |