Canonical Allele Identifier:
CA11867684
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.73612177 (NFE)
Genomes Max Group AF
0.73612177 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.153943598T>C , CM000666.2:g.153943598T>C | GRCh38 |
| NC_000004.11:g.154864750T>C , CM000666.1:g.154864750T>C | GRCh37 |
| NC_000004.10:g.155084200T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001741892.1:n.1348-5223T>C |