HGVS | Genome Assembly |
---|---|
NC_000011.10:g.66560651C= , CM000673.2:g.66560651C= | GRCh38 |
NC_000011.9:g.66328122C= , CM000673.1:g.66328122C= | GRCh37 |
NC_000011.8:g.66084698C= | NCBI36 |
NG_013304.2:g.18732C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000513398.2:c.1756C= MANE Select | ENSP00000426797.1:p.Gln586= | |
ENST00000502692.5:c.1885C= | ENSP00000422007.1:p.Gln629= | |
ENST00000513398.1:c.1756C= | ENSP00000426797.1:p.Gln586= | |
NM_001104.3:c.1756C= | NP_001095.2:p.Gln586= | |
NM_001258371.2:c.1885C= | NP_001245300.2:p.Gln629= | |
NM_001104.4:c.1756C= MANE Select | NP_001095.2:p.Gln586= | |
NM_001258371.3:c.1885C= | NP_001245300.2:p.Gln629= |