HGVS | Genome Assembly |
---|---|
NC_000011.10:g.66560365A>G , CM000673.2:g.66560365A>G | GRCh38 |
NC_000011.9:g.66327836A>G , CM000673.1:g.66327836A>G | GRCh37 |
NC_000011.8:g.66084412A>G | NCBI36 |
NG_013304.2:g.18446A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000513398.2:c.1677+54A>G MANE Select | ENSP00000426797.1:n.1677+54A>G | |
ENST00000502692.5:c.1806+54A>G | ENSP00000422007.1:n.1806+54A>G | |
ENST00000513398.1:c.1677+54A>G | ENSP00000426797.1:n.1677+54A>G | |
NM_001104.3:c.1677+54A>G | NP_001095.2:n.1677+54A>G | |
NM_001258371.2:c.1806+54A>G | NP_001245300.2:n.1806+54A>G | |
NM_001104.4:c.1677+54A>G MANE Select | NP_001095.2:n.1677+54A>G | |
NM_001258371.3:c.1806+54A>G | NP_001245300.2:n.1806+54A>G |