Linked Data
dbSNP Id:
rs1232075135
gnomAD v2:
13-52609248-C-G
gnomAD v3:
13-52035112-C-G
gnomAD v4:
13-52035112-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.52035112C>G , CM000675.2:g.52035112C>G | GRCh38 |
| NC_000013.10:g.52609248C>G , CM000675.1:g.52609248C>G | GRCh37 |
| NC_000013.9:g.51507249C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647945.2:c.*1836G>C (NEK5) | ENSP00000497892.1:n.*1836G>C | |
| ENST00000684899.1:c.*1836G>C (NEK5) MANE Select | ENSP00000509632.1:n.*1836G>C | |
| ENST00000649708.2:c.275+15969C>G (ALG11) | ENSP00000497459.2:n.275+15969C>G | |
| ENST00000652502.1:n.3998G>C (NEK5) | ||
| ENST00000679495.1:n.44+22650C>G (ALG11) | ||
| ENST00000529080.5:n.2539G>C (NEK5) | ||
| NM_001365552.1:c.*1836G>C (NEK5) MANE Select | NP_001352481.1:n.*1836G>C |