Canonical Allele Identifier:
CA12585259
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.81649296 (EAS)
Genomes Max Group AF
0.81649296 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.35361837T>C , CM000669.2:g.35361837T>C | GRCh38 |
| NC_000007.13:g.35401447T>C , CM000669.1:g.35401447T>C | GRCh37 |
| NC_000007.12:g.35367972T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_038864.1:n.187+9446T>C |