gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.53089931 (EAS)
Genomes Max Group AF
0.53089931 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.100236272C>T , CM000664.2:g.100236272C>T | GRCh38 |
| NC_000002.11:g.100852734C>T , CM000664.1:g.100852734C>T | GRCh37 |
| NC_000002.10:g.100219166C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_103730.1:n.568-10840C>T |