gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.50949739 (SAS)
Genomes Max Group AF
0.50949739 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33121846C>A , CM000668.2:g.33121846C>A | GRCh38 |
| NC_000006.11:g.33089623C>A , CM000668.1:g.33089623C>A | GRCh37 |
| NC_000006.10:g.33197601C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470997.1:n.364+4626C>A | ||
| NR_001435.1:n.364+4626C>A | ||
| NR_001435.2:n.364+4626C>A |