gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.19933931 (AFR)
Genomes Max Group AF
0.19933931 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.88021345C>A , CM000676.2:g.88021345C>A | GRCh38 |
| NC_000014.8:g.88487689C>A , CM000676.1:g.88487689C>A | GRCh37 |
| NC_000014.7:g.87557442C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_110121.1:n.327+2330G>T |