HGVS | Genome Assembly |
---|---|
NC_000013.11:g.52035108G>A , CM000675.2:g.52035108G>A | GRCh38 |
NC_000013.10:g.52609244G>A , CM000675.1:g.52609244G>A | GRCh37 |
NC_000013.9:g.51507245G>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000647945.2:c.*1840C>T (NEK5) | ENSP00000497892.1:n.*1840C>T | |
ENST00000684899.1:c.*1840C>T (NEK5) MANE Select | ENSP00000509632.1:n.*1840C>T | |
ENST00000649708.2:c.275+15965G>A (ALG11) | ENSP00000497459.2:n.275+15965G>A | |
ENST00000652502.1:n.4002C>T (NEK5) | ||
ENST00000679495.1:n.44+22646G>A (ALG11) | ||
ENST00000529080.5:n.2543C>T (NEK5) | ||
NM_001365552.1:c.*1840C>T (NEK5) MANE Select | NP_001352481.1:n.*1840C>T |