gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.11272713 (SAS)
Genomes Max Group AF
0.11272713 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.159988493T>G , CM000665.2:g.159988493T>G | GRCh38 |
| NC_000003.11:g.159706280T>G , CM000665.1:g.159706280T>G | GRCh37 |
| NC_000003.10:g.161188974T>G | NCBI36 |
| NG_033022.1:g.4658T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_108088.1:n.1350+604A>C |