Canonical Allele Identifier:
CA11038527
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.64196652 (EAS)
Genomes Max Group AF
0.64196652 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.175457761T>C , CM000664.2:g.175457761T>C | GRCh38 |
| NC_000002.11:g.176322489T>C , CM000664.1:g.176322489T>C | GRCh37 |
| NC_000002.10:g.176030735T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_923596.1:n.79+3077T>C |