gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.70013827 (AFR)
Genomes Max Group AF
0.70013827 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48256972G>A , CM000681.2:g.48256972G>A | GRCh38 |
| NC_000019.9:g.48760229G>A , CM000681.1:g.48760229G>A | GRCh37 |
| NC_000019.8:g.53452041G>A | NCBI36 |
| NG_029574.1:g.3975C>T | |
| NG_029574.2:g.4298C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000597695.1:c.-162+18987G>A (ZNF114) | ENSP00000472747.1:n.-162+18987G>A | |
| NR_040599.1:n.742G>A (CARD8-AS1) |