Canonical Allele Identifier:
CA16140219
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.48362682 (NFE)
Genomes Max Group AF
0.48362682 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.37193098C>T , CM000665.2:g.37193098C>T | GRCh38 |
| NC_000003.11:g.37234589C>T , CM000665.1:g.37234589C>T | GRCh37 |
| NC_000003.10:g.37209593C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011534351.1:c.624-3163C>T | XP_011532653.1:n.624-3163C>T | |
| XM_024453854.1:c.624-3163C>T | XP_024309622.1:n.624-3163C>T |