gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.25277029 (SAS)
Genomes Max Group AF
0.25277029 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.38334202C>T , CM000666.2:g.38334202C>T | GRCh38 |
| NC_000004.11:g.38335823C>T , CM000666.1:g.38335823C>T | GRCh37 |
| NC_000004.10:g.38012218C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_925221.1:n.258+3240C>T | ||
| XR_925222.1:n.258+3240C>T | ||
| XR_925223.1:n.258+3240C>T |