Canonical Allele Identifier:
CA193010107
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.54278661 (EAS)
Genomes Max Group AF
0.54278661 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.38456368G>A , CM000671.2:g.38456368G>A | GRCh38 |
| NC_000009.11:g.38456365G>A , CM000671.1:g.38456365G>A | GRCh37 |
| NC_000009.10:g.38446365G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000637760.2:n.649+175G>A | ||
| ENST00000685989.1:n.647+175G>A | ||
| ENST00000635962.1:n.647+175G>A | ||
| ENST00000636076.1:n.76+175G>A | ||
| ENST00000637760.1:n.649+175G>A |