gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.24373547 (AFR)
Genomes Max Group AF
0.24373547 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31172270G>A , CM000668.2:g.31172270G>A | GRCh38 |
| NC_000006.11:g.31140047G>A , CM000668.1:g.31140047G>A | GRCh37 |
| NC_000006.10:g.31248026G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000441888.7:c.-183-6223C>T | ENSP00000389359.2:n.-183-6223C>T |