gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.40863084 (AFR)
Genomes Max Group AF
0.40863084 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.187969286A>C , CM000665.2:g.187969286A>C | GRCh38 |
| NC_000003.11:g.187687074A>C , CM000665.1:g.187687074A>C | GRCh37 |
| NC_000003.10:g.189169768A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_924815.1:n.97-2077T>G | ||
| NR_135537.1:n.83-2077T>G | ||
| NR_135538.1:n.83-2077T>G |