gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.11372063 (NFE)
Genomes Max Group AF
0.11372063 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32381780A>T , CM000668.2:g.32381780A>T | GRCh38 |
| NC_000006.11:g.32349557A>T , CM000668.1:g.32349557A>T | GRCh37 |
| NC_000006.10:g.32457535A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011515039.1:c.481+15941A>T | XP_011513341.1:n.481+15941A>T | |
| XM_011515040.1:c.482-1188A>T | XP_011513342.1:n.482-1188A>T | |
| NR_136244.1:n.501-1184A>T | ||
| NR_136245.1:n.302+15941A>T |