HGVS | Genome Assembly |
---|---|
NC_000006.12:g.32038367T>C , CM000668.2:g.32038367T>C | GRCh38 |
NC_000006.11:g.32006144T>C , CM000668.1:g.32006144T>C | GRCh37 |
NC_000006.10:g.32114123T>C | NCBI36 |
NG_007941.2:g.5063T>C | |
NG_007941.3:g.5063T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000418967.6:c.-56T>C | ENSP00000408860.2:n.-56T>C | |
ENST00000466779.5:c.-56T>C | ENSP00000417321.1:n.-56T>C | |
ENST00000479074.5:n.3T>C | ||
ENST00000479730.5:n.3T>C | ||
ENST00000486063.5:n.28T>C | ||
NM_000500.7:c.-56T>C | NP_000491.4:n.-56T>C | |
NM_001128590.3:c.-56T>C | NP_001122062.3:n.-56T>C | |
NM_001368143.1:c.-480T>C | NP_001355072.1:n.-480T>C | |
NM_001368144.1:c.-390T>C | NP_001355073.1:n.-390T>C |