gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.46484274 (AFR)
Genomes Max Group AF
0.46484274 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.79779234A>G , CM000670.2:g.79779234A>G | GRCh38 |
| NC_000008.10:g.80691469A>G , CM000670.1:g.80691469A>G | GRCh37 |
| NC_000008.9:g.80854024A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_110954.1:n.437-7612T>C | ||
| NR_125410.1:n.139-774A>G |