Canonical Allele Identifier:
CA23054262
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.30809831 (AFR)
Genomes Max Group AF
0.30809831 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.56385014C>A , CM000663.2:g.56385014C>A | GRCh38 |
| NC_000001.10:g.56850686C>A , CM000663.1:g.56850686C>A | GRCh37 |
| NC_000001.9:g.56623274C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000641109.1:c.759+93872G>T | ENSP00000493138.1:n.759+93872G>T | |
| ENST00000641346.1:c.366+15080G>T | ||
| ENST00000641415.1:c.192+98249G>T | ||
| ENST00000641494.1:c.378+98249G>T | ||
| ENST00000642129.1:c.768+98249G>T |