Canonical Allele Identifier:
CA231754989
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.28026427 (AMR)
Genomes Max Group AF
0.28026427 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.4367051T>C , CM000674.2:g.4367051T>C | GRCh38 |
| NC_000012.11:g.4476217T>C , CM000674.1:g.4476217T>C | GRCh37 |
| NC_000012.10:g.4346478T>C | NCBI36 |
| NG_007087.1:g.17678A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648100.1:c.*1967+769T>C | ENSP00000497536.1:n.*1967+769T>C | |
| ENST00000674624.1:c.*1204+769T>C | ENSP00000501898.1:n.*1204+769T>C |