gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.37220505 (EAS)
Genomes Max Group AF
0.37220505 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.78366809C>T , CM000679.2:g.78366809C>T | GRCh38 |
| NC_000017.10:g.76362890C>T , CM000679.1:g.76362890C>T | GRCh37 |
| NC_000017.9:g.73874485C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_110847.1:n.406-384C>T |