gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.58315915 (SAS)
Genomes Max Group AF
0.58315915 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.29508125C>T , CM000668.2:g.29508125C>T | GRCh38 |
| NC_000006.11:g.29475902C>T , CM000668.1:g.29475902C>T | GRCh37 |
| NC_000006.10:g.29583881C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_926678.1:n.665+457C>T | ||
| XR_926679.1:n.590+457C>T | ||
| XR_926679.2:n.622+457C>T |