gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.40676206 (EAS)
Genomes Max Group AF
0.40676206 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.32180200T>C , CM000683.2:g.32180200T>C | GRCh38 |
| NC_000021.8:g.33552512T>C , CM000683.1:g.33552512T>C | GRCh37 |
| NC_000021.7:g.32474383T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_937663.1:n.203-23698A>G | ||
| XR_002958619.1:n.2877-23698A>G |