Canonical Allele Identifier:
CA13681013
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.21591526 (SAS)
Genomes Max Group AF
0.21591526 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.4381178C>G , CM000674.2:g.4381178C>G | GRCh38 |
| NC_000012.11:g.4490344C>G , CM000674.1:g.4490344C>G | GRCh37 |
| NC_000012.10:g.4360605C>G | NCBI36 |
| NG_007087.1:g.3551G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648100.1:c.*1967+14896C>G | ENSP00000497536.1:n.*1967+14896C>G | |
| ENST00000674624.1:c.*1204+14896C>G | ENSP00000501898.1:n.*1204+14896C>G |