gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.04294416 (NFE)
Genomes Max Group AF
0.04294416 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31398010G>A , CM000668.2:g.31398010G>A | GRCh38 |
| NC_000006.11:g.31365787G>A , CM000668.1:g.31365787G>A | GRCh37 |
| NC_000006.10:g.31473766G>A | NCBI36 |
| NG_034139.1:g.3232G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_241998.3:n.427+49C>T | ||
| NR_148222.1:n.417+2044C>T | ||
| NR_148223.1:n.450+49C>T |