HGVS | Genome Assembly |
---|---|
NC_000020.11:g.44651819C>A , CM000682.2:g.44651819C>A | GRCh38 |
NC_000020.10:g.43280460C>A , CM000682.1:g.43280460C>A | GRCh37 |
NC_000020.9:g.42713874C>A | NCBI36 |
NG_007385.1:g.4917G>T , LRG_16:g.4917G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000536076.2:c.-121+83G>T | ENSP00000512234.1:n.-121+83G>T | |
ENST00000696039.1:n.321+83G>T | ||
ENST00000696062.1:c.96+281G>T | ENSP00000512365.1:n.96+281G>T | |
ENST00000696064.1:c.-118+83G>T | ENSP00000512367.1:n.-118+83G>T | |
ENST00000696065.1:c.-121+83G>T | ENSP00000512368.1:n.-121+83G>T | |
ENST00000535573.1:n.332+83G>T | ||
ENST00000536076.1:n.213+83G>T | ||
XM_011528479.1:c.-257+83G>T | XP_011526781.1:n.-257+83G>T |