gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00587877 (AFR)
Genomes Max Group AF
0.00587877 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143425831A>G , CM000669.2:g.143425831A>G | GRCh38 |
| NC_000007.13:g.143122924A>G , CM000669.1:g.143122924A>G | GRCh37 |
| NC_000007.12:g.142833046A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_033897.1:n.206+10632A>G |