gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.21143964 (SAS)
Genomes Max Group AF
0.21143964 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.52313141C>T , CM000672.2:g.52313141C>T | GRCh38 |
| NC_000010.10:g.54072901C>T , CM000672.1:g.54072901C>T | GRCh37 |
| NC_000010.9:g.53742907C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_038277.1:n.583+257G>A |