gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.3355673 (SAS)
Genomes Max Group AF
0.3355673 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.159926508A>G , CM000665.2:g.159926508A>G | GRCh38 |
| NC_000003.11:g.159644297A>G , CM000665.1:g.159644297A>G | GRCh37 |
| NC_000003.10:g.161126991A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_108088.1:n.1351-12034T>C |