gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.23640682 (AFR)
Genomes Max Group AF
0.23640682 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.120831861C>T , CM000672.2:g.120831861C>T | GRCh38 |
| NC_000010.10:g.122591373C>T , CM000672.1:g.122591373C>T | GRCh37 |
| NC_000010.9:g.122581363C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_033850.1:n.486+18833G>A |