gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.25054539 (NFE)
Genomes Max Group AF
0.25054539 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.45847931C>T , CM000679.2:g.45847931C>T | GRCh38 |
| NC_000017.10:g.43925297C>T , CM000679.1:g.43925297C>T | GRCh37 |
| NC_000017.9:g.41281077C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_024559.1:n.35-3770G>A |