gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.94016311 (SAS)
Genomes Max Group AF
0.94016311 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.79823470A>G , CM000668.2:g.79823470A>G | GRCh38 |
| NC_000006.11:g.80533187A>G , CM000668.1:g.80533187A>G | GRCh37 |
| NC_000006.10:g.80589906A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_001243308.1:c.59-16129T>C | NP_001230237.1:n.59-16129T>C | |
| XM_011536236.1:c.17-16129T>C | XP_011534538.1:n.17-16129T>C | |
| XM_011536237.1:c.17-16129T>C | XP_011534539.1:n.17-16129T>C |