HGVS | Genome Assembly |
---|---|
NC_000003.12:g.180659510C= , CM000665.2:g.180659510C= | GRCh38 |
NC_000003.11:g.180377298C= , CM000665.1:g.180377298C= | GRCh37 |
NC_000003.10:g.181859992C= | NCBI36 |
NG_029581.1:g.24986G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000476379.6:c.680G= MANE Select | ENSP00000417960.2:p.Trp227= | |
ENST00000650641.1:n.759G= | ||
ENST00000650889.1:n.852G= | ||
ENST00000651046.1:c.680G= | ENSP00000499175.1:p.Trp227= | |
ENST00000651818.1:n.822G= | ||
ENST00000652024.1:n.771G= | ||
ENST00000652408.1:n.817G= | ||
ENST00000442201.6:c.680G= | ENSP00000405708.2:p.Trp227= | |
ENST00000476379.5:c.680G= | ENSP00000417960.1:p.Trp227= | |
NM_181426.1:c.680G= | NP_852091.1:p.Trp227= | |
NM_181426.2:c.680G= MANE Select | NP_852091.1:p.Trp227= |