Linked Data
dbSNP Id:
rs181542630
gnomAD v2:
13-52609243-T-C
gnomAD v3:
13-52035107-T-C
gnomAD v4:
13-52035107-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.52035107T>C , CM000675.2:g.52035107T>C | GRCh38 |
| NC_000013.10:g.52609243T>C , CM000675.1:g.52609243T>C | GRCh37 |
| NC_000013.9:g.51507244T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647945.2:c.*1841A>G (NEK5) | ENSP00000497892.1:n.*1841A>G | |
| ENST00000684899.1:c.*1841A>G (NEK5) MANE Select | ENSP00000509632.1:n.*1841A>G | |
| ENST00000649708.2:c.275+15964T>C (ALG11) | ENSP00000497459.2:n.275+15964T>C | |
| ENST00000652502.1:n.4003A>G (NEK5) | ||
| ENST00000679495.1:n.44+22645T>C (ALG11) | ||
| ENST00000529080.5:n.2544A>G (NEK5) | ||
| NM_001365552.1:c.*1841A>G (NEK5) MANE Select | NP_001352481.1:n.*1841A>G |