gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.65691366 (SAS)
Genomes Max Group AF
0.65691366 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.4259186T>C , CM000674.2:g.4259186T>C | GRCh38 |
| NC_000012.11:g.4368352T>C , CM000674.1:g.4368352T>C | GRCh37 |
| NC_000012.10:g.4238613T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_125790.1:n.127-9993A>G | ||
| NR_149145.1:n.183-6001A>G | ||
| NR_149146.1:n.183-9993A>G |