HGVS | Genome Assembly |
---|---|
NC_000013.11:g.52035129A>G , CM000675.2:g.52035129A>G | GRCh38 |
NC_000013.10:g.52609265A>G , CM000675.1:g.52609265A>G | GRCh37 |
NC_000013.9:g.51507266A>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000647945.2:c.*1819T>C (NEK5) | ENSP00000497892.1:n.*1819T>C | |
ENST00000684899.1:c.*1819T>C (NEK5) MANE Select | ENSP00000509632.1:n.*1819T>C | |
ENST00000649708.2:c.275+15986A>G (ALG11) | ENSP00000497459.2:n.275+15986A>G | |
ENST00000652502.1:n.3981T>C (NEK5) | ||
ENST00000679495.1:n.44+22667A>G (ALG11) | ||
ENST00000529080.5:n.2522T>C (NEK5) | ||
NM_001365552.1:c.*1819T>C (NEK5) MANE Select | NP_001352481.1:n.*1819T>C |