gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.13387411 (AFR)
Genomes Max Group AF
0.13387411 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102809235G>C , CM000673.2:g.102809235G>C | GRCh38 |
| NC_000011.9:g.102679966G>C , CM000673.1:g.102679966G>C | GRCh37 |
| NC_000011.8:g.102185176G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371455.7:n.423+11113G>C | ||
| ENST00000525739.6:n.682+11113G>C | ||
| ENST00000544704.1:n.443+11113G>C | ||
| NR_038390.1:n.682+11113G>C |