gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.70575637 (AFR)
Genomes Max Group AF
0.70575637 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.159979210C>T , CM000665.2:g.159979210C>T | GRCh38 |
| NC_000003.11:g.159696998C>T , CM000665.1:g.159696998C>T | GRCh37 |
| NC_000003.10:g.161179692C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_108088.1:n.1350+9887G>A |