gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.68898237 (AFR)
Genomes Max Group AF
0.68898237 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88305270T>C , CM000666.2:g.88305270T>C | GRCh38 |
| NC_000004.11:g.89226422T>C , CM000666.1:g.89226422T>C | GRCh37 |
| NC_000004.10:g.89445446T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_244670.3:n.349-6526T>C | ||
| XR_938963.1:n.349-6526T>C | ||
| NR_134236.1:n.133-6526T>C | ||
| NR_134237.1:n.133-11416T>C | ||
| NR_134238.1:n.133-6526T>C |