HGVS | Genome Assembly |
---|---|
NC_000023.11:g.22033083T>A , CM000685.2:g.22033083T>A | GRCh38 |
NC_000023.10:g.22051201T>A , CM000685.1:g.22051201T>A | GRCh37 |
NC_000023.9:g.21961122T>A | NCBI36 |
NG_007563.2:g.5281T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000475778.2:n.504T>A | ||
ENST00000683214.1:n.504T>A | ||
ENST00000684143.1:c.78T>A | ENSP00000508264.1:p.Phe26Leu | |
ENST00000379374.5:c.78T>A MANE Select | ENSP00000368682.4:p.Phe26Leu | |
ENST00000379374.4:c.78T>A | ENSP00000368682.4:p.Phe26Leu | |
NM_000444.5:c.78T>A | NP_000435.3:p.Phe26Leu | |
NM_001282754.1:c.78T>A | NP_001269683.1:p.Phe26Leu | |
XM_011545535.1:c.78T>A | XP_011543837.1:p.Phe26Leu | |
XR_001755695.1:n.757T>A | ||
NM_000444.6:c.78T>A MANE Select | NP_000435.3:p.Phe26Leu | |
NM_001282754.2:c.78T>A | NP_001269683.1:p.Phe26Leu |