HGVS | Genome Assembly |
---|---|
NC_000006.12:g.32038365G>A , CM000668.2:g.32038365G>A | GRCh38 |
NC_000006.11:g.32006142G>A , CM000668.1:g.32006142G>A | GRCh37 |
NC_000006.10:g.32114121G>A | NCBI36 |
NG_007941.2:g.5061G>A | |
NG_007941.3:g.5061G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000418967.6:c.-58G>A | ENSP00000408860.2:n.-58G>A | |
ENST00000466779.5:c.-58G>A | ENSP00000417321.1:n.-58G>A | |
ENST00000479074.5:n.1G>A | ||
ENST00000479730.5:n.1G>A | ||
ENST00000486063.5:n.26G>A | ||
NM_000500.7:c.-58G>A | NP_000491.4:n.-58G>A | |
NM_001128590.3:c.-58G>A | NP_001122062.3:n.-58G>A | |
NM_001368143.1:c.-482G>A | NP_001355072.1:n.-482G>A | |
NM_001368144.1:c.-392G>A | NP_001355073.1:n.-392G>A |