gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.78712402 (AFR)
Genomes Max Group AF
0.78712402 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.160001345A>G , CM000665.2:g.160001345A>G | GRCh38 |
| NC_000003.11:g.159719132A>G , CM000665.1:g.159719132A>G | GRCh37 |
| NC_000003.10:g.161201826A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_108088.1:n.823-3240T>C |