Canonical Allele Identifier:
CA2023384270
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.26300350A>C , CM000674.2:g.26300350A>C | GRCh38 |
| NC_000012.11:g.26453283A>C , CM000674.1:g.26453283A>C | GRCh37 |
| NC_000012.10:g.26344550A>C | NCBI36 |
| NG_012011.2:g.183360A>C , LRG_209:g.183360A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XR_001749052.1:n.2270-773A>C | |
| XR_001749053.1:n.2270-773A>C | |
| XR_931450.1:n.1140-773A>C | |
| XR_931451.1:n.989-773A>C | |
| XR_931451.2:n.1389-773A>C | |
| XR_931452.1:n.988+1925A>C | |
| XR_931452.2:n.1388+1925A>C |