gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.51994968 (NFE)
Genomes Max Group AF
0.51994968 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.42443894T>C , CM000675.2:g.42443894T>C | GRCh38 |
| NC_000013.10:g.43018030T>C , CM000675.1:g.43018030T>C | GRCh37 |
| NC_000013.9:g.41916030T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_941906.1:n.244+6422T>C | ||
| XR_941907.1:n.245-73T>C | ||
| NR_135319.1:n.336+6422T>C |