gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.87268759 (EAS)
Genomes Max Group AF
0.87283473 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94380322T>C , CM000669.2:g.94380322T>C | GRCh38 |
| NC_000007.13:g.94009634T>C , CM000669.1:g.94009634T>C | GRCh37 |
| NC_000007.12:g.93847570T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_927753.1:n.2325+11083A>G | ||
| XR_927754.1:n.1683A>G | ||
| XR_927755.1:n.2325+11083A>G | ||
| NR_147206.1:n.476A>G |