gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.65239428 (AFR)
Genomes Max Group AF
0.65239428 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.127310936T>C , CM000670.2:g.127310936T>C | GRCh38 |
| NC_000008.10:g.128323181T>C , CM000670.1:g.128323181T>C | GRCh37 |
| NC_000008.9:g.128392363T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_117099.1:n.149-11137T>C (CASC21) | ||
| NR_117100.1:n.1177-20876A>G (CASC8) |