gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.5033748 (NFE)
Genomes Max Group AF
0.50086578 (NFE)
Exomes Max Group AF
0.50326274 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.16342702A>C , CM000679.2:g.16342702A>C | GRCh38 |
| NC_000017.10:g.16246016A>C , CM000679.1:g.16246016A>C | GRCh37 |
| NC_000017.9:g.16186741A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299736.5:c.*115T>G (CENPV) MANE Select | ENSP00000299736.4:n.*115T>G | |
| ENST00000299736.4:c.*115T>G (CENPV) | ENSP00000299736.4:n.*115T>G | |
| ENST00000414755.1:n.192A>C (PIGL) | ||
| ENST00000431149.5:n.551A>C (PIGL) | ||
| ENST00000472570.2:n.386T>G (CENPV) | ||
| ENST00000476243.5:c.*1054T>G (CENPV) | ENSP00000462377.2:n.*1054T>G | |
| ENST00000581006.5:c.427-5990A>C (PIGL) | ENSP00000462432.1:n.427-5990A>C | |
| ENST00000613719.1:n.988-7923A>C (PIGL) | ||
| NM_181716.2:c.*115T>G (CENPV) | NP_859067.2:n.*115T>G | |
| XR_243571.2:n.2765-4843A>C (PIGL) | ||
| XM_017025349.1:c.*1931-4843A>C (PIGL) | XP_016880838.1:n.*1931-4843A>C | |
| XM_017025350.1:c.*1931-4848A>C (PIGL) | XP_016880839.1:n.*1931-4848A>C | |
| XM_017025352.1:c.*1137A>C (PIGL) | XP_016880841.1:n.*1137A>C | |
| XM_017025353.1:c.*1008-4843A>C (PIGL) | XP_016880842.1:n.*1008-4843A>C | |
| XM_017025354.1:c.*1129A>C (PIGL) | XP_016880843.1:n.*1129A>C | |
| XM_017025355.1:c.*1000-4843A>C (PIGL) | XP_016880844.1:n.*1000-4843A>C | |
| XM_017025356.1:c.*2373A>C (PIGL) | XP_016880845.1:n.*2373A>C | |
| NM_181716.3:c.*115T>G (CENPV) MANE Select | NP_859067.2:n.*115T>G |