Linked Data
ClinVar Variation Id:
242929
ClinVar RCV Id:
RCV000234925
dbSNP Id:
rs757011098
ExAC:
14:75573244 G / A
gnomAD v2:
14-75573244-G-A
gnomAD v3:
14-75106541-G-A
gnomAD v4:
14-75106541-G-A
COSMIC:
COSM6301411
PubMed:
PMID:26908619
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75106541G>A , CM000676.2:g.75106541G>A | GRCh38 |
| NC_000014.8:g.75573244G>A , CM000676.1:g.75573244G>A | GRCh37 |
| NC_000014.7:g.74642997G>A | NCBI36 |
| NG_051093.1:g.25540C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000238616.10:c.1489C>T (NEK9) MANE Select | ENSP00000238616.5:p.Arg497Ter | |
| ENST00000553823.6:c.1489C>T (NEK9) | ENSP00000452537.2:p.Arg497Ter | |
| ENST00000557673.6:c.*925C>T (NEK9) | ENSP00000450943.2:n.*925C>T | |
| ENST00000673981.1:c.*80-2346G>A (ZC2HC1C) | ENSP00000501014.1:n.*80-2346G>A | |
| ENST00000677700.1:c.886C>T (NEK9) | ||
| ENST00000678037.1:c.1489C>T (NEK9) | ENSP00000504620.1:p.Arg497Ter | |
| ENST00000678531.1:c.1135C>T (NEK9) | ENSP00000503827.1:p.Arg379Ter | |
| ENST00000678749.1:c.1135C>T (NEK9) | ENSP00000504104.1:p.Arg379Ter | |
| ENST00000238616.9:c.1489C>T (NEK9) | ENSP00000238616.5:p.Arg497Ter | |
| ENST00000556170.5:n.1613C>T (NEK9) | ||
| ENST00000557026.5:n.778C>T (NEK9) | ||
| NM_033116.4:c.1489C>T (NEK9) | NP_149107.4:p.Arg497Ter | |
| XM_005268208.1:c.1489C>T (NEK9) | XP_005268265.1:p.Arg497Ter | |
| XM_005268209.2:c.1135C>T (NEK9) | XP_005268266.1:p.Arg379Ter | |
| NM_001329237.1:c.1489C>T (NEK9) | NP_001316166.1:p.Arg497Ter | |
| NM_001329238.1:c.1135C>T (NEK9) | NP_001316167.1:p.Arg379Ter | |
| NM_033116.5:c.1489C>T (NEK9) | NP_149107.4:p.Arg497Ter | |
| XM_005268209.3:c.1135C>T (NEK9) | XP_005268266.1:p.Arg379Ter | |
| XM_024449741.1:c.1135C>T (NEK9) | XP_024305509.1:p.Arg379Ter | |
| NM_033116.6:c.1489C>T (NEK9) MANE Select | NP_149107.4:p.Arg497Ter | |
| NM_001329237.2:c.1489C>T (NEK9) | NP_001316166.1:p.Arg497Ter | |
| NM_001329238.2:c.1135C>T (NEK9) | NP_001316167.1:p.Arg379Ter |