Canonical Allele Identifier:
CA2824552546
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.8707873G>T , CM000686.2:g.8707873G>T | GRCh38 |
| NC_000024.9:g.8575914G>T , CM000686.1:g.8575914G>T | GRCh37 |
| NC_000024.8:g.8635914G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000623558.1:c.139+8841G>T | ENSP00000485446.1:n.139+8841G>T | |
| ENST00000624593.1:c.-57+40843C>A | ENSP00000485106.1:n.-57+40843C>A |