Canonical Allele Identifier:
CA14290662
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.60009089 (EAS)
Genomes Max Group AF
0.60009089 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88787321C>T , CM000678.2:g.88787321C>T | GRCh38 |
| NC_000016.9:g.88853729C>T , CM000678.1:g.88853729C>T | GRCh37 |
| NC_000016.8:g.87381230C>T | NCBI36 |
| NG_042229.1:g.2900G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001752302.1:n.117+1450C>T | ||
| XR_001752303.1:n.117+1450C>T |