gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.94356919 (EAS)
Genomes Max Group AF
0.94356919 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.39559868A>C , CM000684.2:g.39559868A>C | GRCh38 |
| NC_000022.10:g.39955873A>C , CM000684.1:g.39955873A>C | GRCh37 |
| NC_000022.9:g.38285819A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011530480.1:c.-22+1804A>C | XP_011528782.1:n.-22+1804A>C | |
| XM_011530481.1:c.-22+1804A>C | XP_011528783.1:n.-22+1804A>C |