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