HGVS | Genome Assembly |
---|---|
NC_000013.11:g.52034934T>C , CM000675.2:g.52034934T>C | GRCh38 |
NC_000013.10:g.52609070T>C , CM000675.1:g.52609070T>C | GRCh37 |
NC_000013.9:g.51507071T>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000647945.2:c.*2014A>G (NEK5) | ENSP00000497892.1:n.*2014A>G | |
ENST00000684899.1:c.*2014A>G (NEK5) MANE Select | ENSP00000509632.1:n.*2014A>G | |
ENST00000649708.2:c.275+15791T>C (ALG11) | ENSP00000497459.2:n.275+15791T>C | |
ENST00000652502.1:n.4176A>G (NEK5) | ||
ENST00000679495.1:n.44+22472T>C (ALG11) | ||
ENST00000529080.5:n.2717A>G (NEK5) | ||
NM_001365552.1:c.*2014A>G (NEK5) MANE Select | NP_001352481.1:n.*2014A>G |