gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.19773495 (AFR)
Genomes Max Group AF
0.19773495 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.117524897T>G , CM000672.2:g.117524897T>G | GRCh38 |
| NC_000010.10:g.119284408T>G , CM000672.1:g.119284408T>G | GRCh37 |
| NC_000010.9:g.119274398T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_002791.2:n.574+19409A>C | ||
| NR_144378.1:n.493+17200A>C |