gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.42425121 (AFR)
Genomes Max Group AF
0.42425121 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46451156G>A , CM000682.2:g.46451156G>A | GRCh38 |
| NC_000020.10:g.45079795G>A , CM000682.1:g.45079795G>A | GRCh37 |
| NC_000020.9:g.44513202G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400371.2:n.1985+4739C>T |