dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.19772652 (EAS)
Genomes Max Group AF
0.19772652 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.35928474C>T , CM000676.2:g.35928474C>T | GRCh38 |
| NC_000014.8:g.36397680C>T , CM000676.1:g.36397680C>T | GRCh37 |
| NC_000014.7:g.35467431C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000551774.1:c.599-3249C>T |