gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.37200217 (SAS)
Genomes Max Group AF
0.37200217 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.11495484C>T , CM000674.2:g.11495484C>T | GRCh38 |
| NC_000012.11:g.11648418C>T , CM000674.1:g.11648418C>T | GRCh37 |
| NC_000012.10:g.11539685C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545829.1:n.364+5194G>A |