gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.68799407 (EAS)
Genomes Max Group AF
0.68799407 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.127402647T>C , CM000670.2:g.127402647T>C | GRCh38 |
| NC_000008.10:g.128414892T>C , CM000670.1:g.128414892T>C | GRCh37 |
| NC_000008.9:g.128484074T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645438.1:c.-559-12241T>C (POU5F1B) | ENSP00000495779.1:n.-559-12241T>C | |
| NR_117100.1:n.1176+18182A>G (CASC8) |