HGVS | Genome Assembly |
---|---|
NC_000013.11:g.52035028G= , CM000675.2:g.52035028G= | GRCh38 |
NC_000013.10:g.52609164G= , CM000675.1:g.52609164G= | GRCh37 |
NC_000013.9:g.51507165G= | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000647945.2:c.*1920C= (NEK5) | ENSP00000497892.1:n.*1920C= | |
ENST00000684899.1:c.*1920C= (NEK5) MANE Select | ENSP00000509632.1:n.*1920C= | |
ENST00000649708.2:c.275+15885G= (ALG11) | ENSP00000497459.2:n.275+15885G= | |
ENST00000652502.1:n.4082C= (NEK5) | ||
ENST00000679495.1:n.44+22566G= (ALG11) | ||
ENST00000529080.5:n.2623C= (NEK5) | ||
NM_001365552.1:c.*1920C= (NEK5) MANE Select | NP_001352481.1:n.*1920C= |