gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.46703828 (SAS)
Genomes Max Group AF
0.46703828 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.219483821G>A , CM000663.2:g.219483821G>A | GRCh38 |
| NC_000001.10:g.219657163G>A , CM000663.1:g.219657163G>A | GRCh37 |
| NC_000001.9:g.217723786G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_922607.1:n.149-13978C>T | ||
| NR_135822.1:n.135-13978C>T | ||
| XR_001738471.1:n.243+991G>A |