gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.24133849 (NFE)
Genomes Max Group AF
0.24133849 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.88367793C>T , CM000667.2:g.88367793C>T | GRCh38 |
| NC_000005.9:g.87663610C>T , CM000667.1:g.87663610C>T | GRCh37 |
| NC_000005.8:g.87699366C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_039993.1:n.207-42280C>T | ||
| NR_039994.2:n.165-42280C>T | ||
| NR_039995.1:n.207-68480C>T | ||
| NR_105019.1:n.586-42280C>T |