Canonical Allele Identifier:
CA39416396
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.04755972 (AFR)
Genomes Max Group AF
0.04755972 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.234956853A>C , CM000663.2:g.234956853A>C | GRCh38 |
| NC_000001.10:g.235092600A>C , CM000663.1:g.235092600A>C | GRCh37 |
| NC_000001.9:g.233159223A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_949294.1:n.1336-378A>C | ||
| XR_949294.3:n.1949-378A>C |