HGVS | Genome Assembly |
---|---|
NC_000020.11:g.44651910G>C , CM000682.2:g.44651910G>C | GRCh38 |
NC_000020.10:g.43280551G>C , CM000682.1:g.43280551G>C | GRCh37 |
NC_000020.9:g.42713965G>C | NCBI36 |
NG_007385.1:g.4826C>G , LRG_16:g.4826C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000536076.2:c.-129C>G | ENSP00000512234.1:n.-129C>G | |
ENST00000696039.1:n.313C>G | ||
ENST00000696062.1:c.96+190C>G | ENSP00000512365.1:n.96+190C>G | |
ENST00000696064.1:c.-126C>G | ENSP00000512367.1:n.-126C>G | |
ENST00000696065.1:c.-129C>G | ENSP00000512368.1:n.-129C>G | |
ENST00000535573.1:n.324C>G | ||
ENST00000536076.1:n.205C>G | ||
XM_011528479.1:c.-265C>G | XP_011526781.1:n.-265C>G |