gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.72173156 (EAS)
Genomes Max Group AF
0.72173156 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.31422680A>G , CM000682.2:g.31422680A>G | GRCh38 |
| NC_000020.10:g.30010483A>G , CM000682.1:g.30010483A>G | GRCh37 |
| NC_000020.9:g.29474144A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433453.1:n.257-1002T>C | ||
| ENST00000569013.1:n.49-1002T>C | ||
| NR_045677.1:n.257-1002T>C |