HGVS | Genome Assembly |
---|---|
NC_000013.11:g.52035201T>C , CM000675.2:g.52035201T>C | GRCh38 |
NC_000013.10:g.52609337T>C , CM000675.1:g.52609337T>C | GRCh37 |
NC_000013.9:g.51507338T>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000647945.2:c.*1747A>G (NEK5) | ENSP00000497892.1:n.*1747A>G | |
ENST00000684899.1:c.*1747A>G (NEK5) MANE Select | ENSP00000509632.1:n.*1747A>G | |
ENST00000649708.2:c.275+16058T>C (ALG11) | ENSP00000497459.2:n.275+16058T>C | |
ENST00000652502.1:n.3909A>G (NEK5) | ||
ENST00000679495.1:n.44+22739T>C (ALG11) | ||
ENST00000529080.5:n.2450A>G (NEK5) | ||
NM_001365552.1:c.*1747A>G (NEK5) MANE Select | NP_001352481.1:n.*1747A>G |