gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.32915321 (EAS)
Genomes Max Group AF
0.32915321 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.51845108C>T , CM000664.2:g.51845108C>T | GRCh38 |
| NC_000002.11:g.52072246C>T , CM000664.1:g.52072246C>T | GRCh37 |
| NC_000002.10:g.51925750C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_245003.1:n.840-16341C>T | ||
| NR_135237.1:n.840-16341C>T |