gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.3960109 (SAS)
Genomes Max Group AF
0.3960109 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.77215780G>T , CM000666.2:g.77215780G>T | GRCh38 |
| NC_000004.11:g.78136933G>T , CM000666.1:g.78136933G>T | GRCh37 |
| NC_000004.10:g.78355957G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000497512.5:n.1675+23513G>T | ||
| ENST00000514756.1:n.101+23513G>T |