gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.23218895 (AFR)
Genomes Max Group AF
0.23218895 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.1032842A>C , CM000672.2:g.1032842A>C | GRCh38 |
| NC_000010.10:g.1078782A>C , CM000672.1:g.1078782A>C | GRCh37 |
| NC_000010.9:g.1068782A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_024628.1:n.148-2972A>C | ||
| NR_024629.1:n.148-3947A>C | ||
| NR_027708.1:n.148-2448A>C | ||
| NR_027709.1:n.148-2448A>C |