gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.66802201 (AFR)
Genomes Max Group AF
0.66802201 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36708203C>G , CM000684.2:g.36708203C>G | GRCh38 |
| NC_000022.10:g.37104248C>G , CM000684.1:g.37104248C>G | GRCh37 |
| NC_000022.9:g.35434194C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_938227.1:n.75+4211C>G | ||
| NR_134623.1:n.117+4211C>G |