Canonical Allele Identifier:
CA177290601
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.93588821 (EAS)
Genomes Max Group AF
0.93588821 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.52772301T>C , CM000670.2:g.52772301T>C | GRCh38 |
| NC_000008.10:g.53684861T>C , CM000670.1:g.53684861T>C | GRCh37 |
| NC_000008.9:g.53847414T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_928875.1:n.687+2206T>C | ||
| XR_928876.1:n.1042+2206T>C | ||
| XR_001745898.1:n.685+2206T>C |