HGVS | Genome Assembly |
---|---|
NC_000020.11:g.44651911C>G , CM000682.2:g.44651911C>G | GRCh38 |
NC_000020.10:g.43280552C>G , CM000682.1:g.43280552C>G | GRCh37 |
NC_000020.9:g.42713966C>G | NCBI36 |
NG_007385.1:g.4825G>C , LRG_16:g.4825G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000536076.2:c.-130G>C | ENSP00000512234.1:n.-130G>C | |
ENST00000696039.1:n.312G>C | ||
ENST00000696062.1:c.96+189G>C | ENSP00000512365.1:n.96+189G>C | |
ENST00000696064.1:c.-127G>C | ENSP00000512367.1:n.-127G>C | |
ENST00000696065.1:c.-130G>C | ENSP00000512368.1:n.-130G>C | |
ENST00000535573.1:n.323G>C | ||
ENST00000536076.1:n.204G>C | ||
XM_011528479.1:c.-266G>C | XP_011526781.1:n.-266G>C |