gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.20254516 (EAS)
Genomes Max Group AF
0.20254516 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31304544G>A , CM000668.2:g.31304544G>A | GRCh38 |
| NC_000006.11:g.31272321G>A , CM000668.1:g.31272321G>A | GRCh37 |
| NC_000006.10:g.31380300G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_926691.1:n.949+2234C>T | ||
| XR_926691.2:n.965+2234C>T |