gnomAD v4:
Joint Max Group AF
0.00007611 (EAS)
Exomes Max Group AF
0.00009037 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5254895G>A , CM000673.2:g.5254895G>A | GRCh38 |
| NC_000011.9:g.5276125G>A , CM000673.1:g.5276125G>A | GRCh37 |
| NC_000011.8:g.5232701G>A | NCBI36 |
| NG_000007.3:g.42721C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380252.6:c.-73-381C>T | ENSP00000369602.2:n.-73-381C>T | |
| ENST00000380259.7:c.1380C>T | ENSP00000369609.3:n.1380C>T | |
| ENST00000646569.1:n.550C>T | ||
| ENST00000380252.5:c.63-381C>T | ENSP00000369602.1:n.63-381C>T | |
| ENST00000380259.6:c.-167C>T | ENSP00000369609.2:n.-167C>T |