HGVS | Genome Assembly |
---|---|
NC_000003.12:g.180659452C>A , CM000665.2:g.180659452C>A | GRCh38 |
NC_000003.11:g.180377240C>A , CM000665.1:g.180377240C>A | GRCh37 |
NC_000003.10:g.181859934C>A | NCBI36 |
NG_029581.1:g.25044G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000476379.6:c.738G>T MANE Select | ENSP00000417960.2:p.Leu246Phe | |
ENST00000650641.1:n.817G>T | ||
ENST00000650889.1:n.910G>T | ||
ENST00000651046.1:c.738G>T | ENSP00000499175.1:p.Leu246Phe | |
ENST00000651818.1:n.880G>T | ||
ENST00000652024.1:n.829G>T | ||
ENST00000652408.1:n.875G>T | ||
ENST00000442201.6:c.738G>T | ENSP00000405708.2:p.Leu246Phe | |
ENST00000476379.5:c.738G>T | ENSP00000417960.1:p.Leu246Phe | |
NM_181426.1:c.738G>T | NP_852091.1:p.Leu246Phe | |
NM_181426.2:c.738G>T MANE Select | NP_852091.1:p.Leu246Phe |