gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.13591175 (NFE)
Genomes Max Group AF
0.13591175 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.26662857C>T , CM000684.2:g.26662857C>T | GRCh38 |
| NC_000022.10:g.27058821C>T , CM000684.1:g.27058821C>T | GRCh37 |
| NC_000022.9:g.25388821C>T | NCBI36 |
| NG_016621.2:g.10376C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_003491.3:n.174-459C>T | ||
| NR_033319.2:n.174-459C>T | ||
| NR_033320.2:n.174-459C>T | ||
| NR_033321.2:n.174-459C>T |