gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.1058338 (NFE)
Genomes Max Group AF
0.1058338 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.79111438C>T , CM000667.2:g.79111438C>T | GRCh38 |
| NC_000005.9:g.78407261C>T , CM000667.1:g.78407261C>T | GRCh37 |
| NC_000005.8:g.78443017C>T | NCBI36 |
| NG_029156.1:g.4658C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000520388.5:n.492-7160G>A |