HGVS | Genome Assembly |
---|---|
NC_000011.10:g.66560324G>T , CM000673.2:g.66560324G>T | GRCh38 |
NC_000011.9:g.66327795G>T , CM000673.1:g.66327795G>T | GRCh37 |
NC_000011.8:g.66084371G>T | NCBI36 |
NG_013304.2:g.18405G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000513398.2:c.1677+13G>T MANE Select | ENSP00000426797.1:n.1677+13G>T | |
ENST00000502692.5:c.1806+13G>T | ENSP00000422007.1:n.1806+13G>T | |
ENST00000513398.1:c.1677+13G>T | ENSP00000426797.1:n.1677+13G>T | |
NM_001104.3:c.1677+13G>T | NP_001095.2:n.1677+13G>T | |
NM_001258371.2:c.1806+13G>T | NP_001245300.2:n.1806+13G>T | |
NM_001104.4:c.1677+13G>T MANE Select | NP_001095.2:n.1677+13G>T | |
NM_001258371.3:c.1806+13G>T | NP_001245300.2:n.1806+13G>T |