Canonical Allele Identifier:
CA2551297712
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.8707916T>C , CM000686.2:g.8707916T>C | GRCh38 |
| NC_000024.9:g.8575957T>C , CM000686.1:g.8575957T>C | GRCh37 |
| NC_000024.8:g.8635957T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000623558.1:c.139+8884T>C | ENSP00000485446.1:n.139+8884T>C | |
| ENST00000624593.1:c.-57+40800A>G | ENSP00000485106.1:n.-57+40800A>G |