gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.09255038 (SAS)
Genomes Max Group AF
0.09255038 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.124749450C>T , CM000672.2:g.124749450C>T | GRCh38 |
| NC_000010.10:g.126438019C>T , CM000672.1:g.126438019C>T | GRCh37 |
| NC_000010.9:g.126428009C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000494792.1:c.628+10936G>A | ||
| ENST00000495711.2:c.187-964G>A |