gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.88326378 (AFR)
Genomes Max Group AF
0.88326378 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.219470882A>G , CM000663.2:g.219470882A>G | GRCh38 |
| NC_000001.10:g.219644224A>G , CM000663.1:g.219644224A>G | GRCh37 |
| NC_000001.9:g.217710847A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_922607.1:n.149-1039T>C | ||
| NR_135822.1:n.135-1039T>C | ||
| XR_001738471.1:n.72+1085A>G |