gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.47327845 (AFR)
Genomes Max Group AF
0.47327845 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.111754860A>T , CM000663.2:g.111754860A>T | GRCh38 |
| NC_000001.10:g.112297482A>T , CM000663.1:g.112297482A>T | GRCh37 |
| NC_000001.9:g.112099005A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000679724.1:c.-64A>T (DDX20) | ENSP00000505857.1:n.-64A>T | |
| ENST00000412270.1:n.222+428T>A (INKA2) | ||
| ENST00000444059.2:c.12+841T>A (INKA2) | ENSP00000408238.2:n.12+841T>A | |
| ENST00000625113.1:n.678T>A (INKA2) | ||
| NM_198926.2:c.12+841T>A (INKA2) | NP_945120.1:n.12+841T>A | |
| NR_125963.1:n.222+428T>A |