Canonical Allele Identifier:
CA2526182902
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.8707891C>T , CM000686.2:g.8707891C>T | GRCh38 |
| NC_000024.9:g.8575932C>T , CM000686.1:g.8575932C>T | GRCh37 |
| NC_000024.8:g.8635932C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000623558.1:c.139+8859C>T | ENSP00000485446.1:n.139+8859C>T | |
| ENST00000624593.1:c.-57+40825G>A | ENSP00000485106.1:n.-57+40825G>A |