HGVS | Genome Assembly |
---|---|
NC_000020.11:g.44651900A>G , CM000682.2:g.44651900A>G | GRCh38 |
NC_000020.10:g.43280541A>G , CM000682.1:g.43280541A>G | GRCh37 |
NC_000020.9:g.42713955A>G | NCBI36 |
NG_007385.1:g.4836T>C , LRG_16:g.4836T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000536076.2:c.-121+2T>C | ENSP00000512234.1:n.-121+2T>C | |
ENST00000696039.1:n.321+2T>C | ||
ENST00000696062.1:c.96+200T>C | ENSP00000512365.1:n.96+200T>C | |
ENST00000696064.1:c.-118+2T>C | ENSP00000512367.1:n.-118+2T>C | |
ENST00000696065.1:c.-121+2T>C | ENSP00000512368.1:n.-121+2T>C | |
ENST00000535573.1:n.332+2T>C | ||
ENST00000536076.1:n.213+2T>C | ||
XM_011528479.1:c.-257+2T>C | XP_011526781.1:n.-257+2T>C |