HGVS | Genome Assembly |
---|---|
NC_000011.10:g.66560357G>C , CM000673.2:g.66560357G>C | GRCh38 |
NC_000011.9:g.66327828G>C , CM000673.1:g.66327828G>C | GRCh37 |
NC_000011.8:g.66084404G>C | NCBI36 |
NG_013304.2:g.18438G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000513398.2:c.1677+46G>C MANE Select | ENSP00000426797.1:n.1677+46G>C | |
ENST00000502692.5:c.1806+46G>C | ENSP00000422007.1:n.1806+46G>C | |
ENST00000513398.1:c.1677+46G>C | ENSP00000426797.1:n.1677+46G>C | |
NM_001104.3:c.1677+46G>C | NP_001095.2:n.1677+46G>C | |
NM_001258371.2:c.1806+46G>C | NP_001245300.2:n.1806+46G>C | |
NM_001104.4:c.1677+46G>C MANE Select | NP_001095.2:n.1677+46G>C | |
NM_001258371.3:c.1806+46G>C | NP_001245300.2:n.1806+46G>C |