gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.69310341 (EAS)
Genomes Max Group AF
0.69310341 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.127412547A>G , CM000670.2:g.127412547A>G | GRCh38 |
| NC_000008.10:g.128424792A>G , CM000670.1:g.128424792A>G | GRCh37 |
| NC_000008.9:g.128493974A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000465342.4:c.-559-2341A>G (POU5F1B) | ENSP00000419298.2:n.-559-2341A>G | |
| ENST00000645438.1:c.-559-2341A>G (POU5F1B) | ENSP00000495779.1:n.-559-2341A>G | |
| NR_117100.1:n.1176+8282T>C (CASC8) |