gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.42563212 (EAS)
Genomes Max Group AF
0.42563212 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.130900794T>G , CM000669.2:g.130900794T>G | GRCh38 |
| NC_000007.13:g.130585553T>G , CM000669.1:g.130585553T>G | GRCh37 |
| NC_000007.12:g.130236093T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_034120.1:n.403+11316A>C | ||
| NR_110472.1:n.403+11316A>C | ||
| NR_110473.1:n.403+11316A>C | ||
| NR_170175.1:n.1765+11316A>C | ||
| NR_170176.1:n.1599-16398A>C |