gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.93856467 (SAS)
Genomes Max Group AF
0.93856467 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.133492654C>T , CM000672.2:g.133492654C>T | GRCh38 |
| NC_000010.10:g.135306158C>T , CM000672.1:g.135306158C>T | GRCh37 |
| NC_000010.9:g.135156148C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000488261.6:n.4041-633C>T | ||
| XR_946512.1:n.305G>A | ||
| XR_946512.2:n.305G>A |