gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.37960829 (NFE)
Genomes Max Group AF
0.37960829 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.58845834C>T , CM000664.2:g.58845834C>T | GRCh38 |
| NC_000002.11:g.59072969C>T , CM000664.1:g.59072969C>T | GRCh37 |
| NC_000002.10:g.58926473C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_033873.1:n.248-4596C>T |