gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.95972118 (EAS)
Genomes Max Group AF
0.95972118 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.97069874C>T , CM000671.2:g.97069874C>T | GRCh38 |
| NC_000009.11:g.99832156C>T , CM000671.1:g.99832156C>T | GRCh37 |
| NC_000009.10:g.98871977C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000679551.1:n.164-9903G>A | ||
| ENST00000681517.1:n.315-9903G>A |