gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.66125512 (NFE)
Genomes Max Group AF
0.66125512 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.135227467C>T , CM000667.2:g.135227467C>T | GRCh38 |
| NC_000005.9:g.134563157C>T , CM000667.1:g.134563157C>T | GRCh37 |
| NC_000005.8:g.134591056C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_001277348.1:c.-362+53295C>T | NP_001264277.1:n.-362+53295C>T | |
| NR_161235.1:n.467+53295C>T |