gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.16775873 (AFR)
Genomes Max Group AF
0.16779343 (AFR)
Exomes Max Group AF
0.12699233 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31531826C>G , CM000668.2:g.31531826C>G | GRCh38 |
| NC_000006.11:g.31499603C>G , CM000668.1:g.31499603C>G | GRCh37 |
| NC_000006.10:g.31607582C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396172.6:c.868-421G>C (DDX39B) MANE Select | ENSP00000379475.1:n.868-421G>C | |
| ENST00000376177.6:c.868-421G>C (DDX39B) | ENSP00000365347.2:n.868-421G>C | |
| ENST00000376185.5:c.*1082-421G>C (ATP6V1G2-DDX39B) | ENSP00000365356.1:n.*1082-421G>C | |
| ENST00000396172.5:c.868-421G>C (DDX39B) | ENSP00000379475.1:n.868-421G>C | |
| ENST00000417023.5:c.159-421G>C (DDX39B) | ||
| ENST00000431908.5:c.634-421G>C (DDX39B) | ENSP00000408000.1:n.634-421G>C | |
| ENST00000458640.5:c.868-421G>C (DDX39B) | ENSP00000416269.1:n.868-421G>C | |
| ENST00000462256.5:n.3393-421G>C (DDX39B) | ||
| ENST00000482195.5:n.1101-421G>C (DDX39B) | ||
| ENST00000484566.5:c.242-421G>C (DDX39B) | ||
| NM_004640.6:c.868-421G>C (DDX39B) | NP_004631.1:n.868-421G>C | |
| NM_080598.5:c.868-421G>C (DDX39B) | NP_542165.1:n.868-421G>C | |
| NR_037852.1:n.1305-421G>C (DDX39B) | ||
| NR_037853.1:n.1671-421G>C (ATP6V1G2-DDX39B) | ||
| NM_004640.7:c.868-421G>C (DDX39B) MANE Select | NP_004631.1:n.868-421G>C | |
| NM_080598.6:c.868-421G>C (DDX39B) | NP_542165.1:n.868-421G>C | |
| NR_037852.2:n.833-421G>C (DDX39B) |