gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.33002979 (EAS)
Genomes Max Group AF
0.33002979 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.106135045G>A , CM000668.2:g.106135045G>A | GRCh38 |
| NC_000006.11:g.106582920G>A , CM000668.1:g.106582920G>A | GRCh37 |
| NC_000006.10:g.106689613G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636335.1:c.458-56730C>T | ENSP00000490221.1:n.458-56730C>T | |
| ENST00000636437.1:c.457+66927C>T | ENSP00000490376.1:n.457+66927C>T |