gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.10853651 (SAS)
Genomes Max Group AF
0.10853651 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116655150C>T , CM000673.2:g.116655150C>T | GRCh38 |
| NC_000011.9:g.116525867C>T , CM000673.1:g.116525867C>T | GRCh37 |
| NC_000011.8:g.116031077C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_246484.2:n.272+2097C>T | ||
| XR_948058.1:n.371C>T | ||
| NR_135069.1:n.272+2097C>T |