gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.82371455 (NFE)
Genomes Max Group AF
0.82371455 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.44110055C>T , CM000681.2:g.44110055C>T | GRCh38 |
| NC_000019.9:g.44614208C>T , CM000681.1:g.44614208C>T | GRCh37 |
| NC_000019.8:g.49306048C>T | NCBI36 |
| NG_051221.1:g.20727C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_033341.1:n.363-1718G>A |