gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00015706 (EAS)
Genomes Max Group AF
0.00015706 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.108267055T>G , CM000675.2:g.108267055T>G | GRCh38 |
| NC_000013.10:g.108919403T>G , CM000675.1:g.108919403T>G | GRCh37 |
| NC_000013.9:g.107717404T>G | NCBI36 |
| NG_029524.1:g.2427T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000486502.1:n.78-3045T>G | ||
| XR_931715.1:n.1690T>G |