gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.16501701 (EAS)
Genomes Max Group AF
0.16501701 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.30830214C>T , CM000668.2:g.30830214C>T | GRCh38 |
| NC_000006.11:g.30797991C>T , CM000668.1:g.30797991C>T | GRCh37 |
| NC_000006.10:g.30905970C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_130726.1:n.145+301G>A |