gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.40182313 (EAS)
Genomes Max Group AF
0.40182313 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.48046570T>C , CM000679.2:g.48046570T>C | GRCh38 |
| NC_000017.10:g.46123932T>C , CM000679.1:g.46123932T>C | GRCh37 |
| NC_000017.9:g.43478931T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_934474.1:n.883+639A>G | ||
| XR_002958017.1:n.878+639A>G | ||
| XR_934474.2:n.878+639A>G |