gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.1257044 (AFR)
Genomes Max Group AF
0.1257044 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.67733188A>G , CM000680.2:g.67733188A>G | GRCh38 |
| NC_000018.9:g.65400425A>G , CM000680.1:g.65400425A>G | GRCh37 |
| NC_000018.8:g.63551405A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_033921.1:n.205-101231A>G | ||
| XR_935586.1:n.61+33820T>C | ||
| XR_935587.1:n.61+33820T>C | ||
| XR_935589.1:n.61+33820T>C | ||
| XR_001753481.2:n.72+33820T>C |