gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.127328663C>A , CM000670.2:g.127328663C>A | GRCh38 |
| NC_000008.10:g.128340908C>A , CM000670.1:g.128340908C>A | GRCh37 |
| NC_000008.9:g.128410090C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645438.1:c.-715+6437C>A (POU5F1B) | ENSP00000495779.1:n.-715+6437C>A | |
| NR_117099.1:n.302+6437C>A (CASC21) | ||
| NR_117100.1:n.1177-38603G>T (CASC8) |