gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.60181606 (AMR)
Genomes Max Group AF
0.60181606 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.97059329C>T , CM000671.2:g.97059329C>T | GRCh38 |
| NC_000009.11:g.99821611C>T , CM000671.1:g.99821611C>T | GRCh37 |
| NC_000009.10:g.98861432C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000679551.1:n.269+537G>A | ||
| ENST00000681517.1:n.420+537G>A |