Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.127401088T>C , CM000670.2:g.127401088T>C | GRCh38 |
| NC_000008.10:g.128413333T>C , CM000670.1:g.128413333T>C | GRCh37 |
| NC_000008.9:g.128482515T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_109834.1:n.690T>C (CCAT2) | |
| NR_117100.1:n.1176+19741A>G (CASC8) | |
| ENST00000645438.1:c.-559-13800T>C (POU5F1B) | ENSP00000495779.1:n.-559-13800T>C |