gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.20788733 (SAS)
Genomes Max Group AF
0.20788733 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.30734192T>G , CM000675.2:g.30734192T>G | GRCh38 |
| NC_000013.10:g.31308329T>G , CM000675.1:g.31308329T>G | GRCh37 |
| NC_000013.9:g.30206329T>G | NCBI36 |
| NG_011963.2:g.25715T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617770.4:c.117-1359T>G | ENSP00000479870.1:n.117-1359T>G | |
| NM_001204406.1:c.117-1359T>G | NP_001191335.1:n.117-1359T>G | |
| NM_001204406.2:c.117-1359T>G | NP_001191335.1:n.117-1359T>G |