gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.45882817 (NFE)
Genomes Max Group AF
0.45885384 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.29212944G>A , CM000668.2:g.29212944G>A | GRCh38 |
| NC_000006.11:g.29180721G>A , CM000668.1:g.29180721G>A | GRCh37 |
| NC_000006.10:g.29288700G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642091.1:n.44+15G>A | ||
| XR_926672.1:n.201-7843C>T |