Canonical Allele Identifier:
CA300081426
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.10307973 (NFE)
Genomes Max Group AF
0.10307973 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.50997791G>A , CM000680.2:g.50997791G>A | GRCh38 |
| NC_000018.9:g.48524161G>A , CM000680.1:g.48524161G>A | GRCh37 |
| NC_000018.8:g.46778159G>A | NCBI36 |
| NG_013013.2:g.34752G>A , LRG_318:g.34752G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000588256.1:n.334+13228G>A | ||
| ENST00000590722.2:c.157+23230G>A | ENSP00000465737.1:n.157+23230G>A |