gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.63094487 (AMR)
Genomes Max Group AF
0.63094487 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.127410882A>G , CM000670.2:g.127410882A>G | GRCh38 |
| NC_000008.10:g.128423127A>G , CM000670.1:g.128423127A>G | GRCh37 |
| NC_000008.9:g.128492309A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000465342.4:c.-560+1851A>G (POU5F1B) | ENSP00000419298.2:n.-560+1851A>G | |
| ENST00000645438.1:c.-559-4006A>G (POU5F1B) | ENSP00000495779.1:n.-559-4006A>G | |
| NR_117100.1:n.1176+9947T>C (CASC8) |