gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.49905685 (AMR)
Genomes Max Group AF
0.49905685 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.62896153G>A , CM000672.2:g.62896153G>A | GRCh38 |
| NC_000010.10:g.64655913G>A , CM000672.1:g.64655913G>A | GRCh37 |
| NC_000010.9:g.64325919G>A | NCBI36 |
| NG_008936.2:g.28748C>T , LRG_239:g.28748C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000493899.2:n.417-1616C>T | ||
| XM_011539428.1:c.-215-1616C>T | XP_011537730.1:n.-215-1616C>T | |
| XR_001747465.1:n.424-1616C>T | ||
| XR_001747466.1:n.424-601C>T |