Canonical Allele Identifier:
CA229502592
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118436165C>T , CM000673.2:g.118436165C>T | GRCh38 |
| NC_000011.9:g.118306880C>T , CM000673.1:g.118306880C>T | GRCh37 |
| NC_000011.8:g.117812090C>T | NCBI36 |
| NG_027813.1:g.4676C>T , LRG_613:g.4676C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648261.1:c.-798-32610C>T | ENSP00000498126.1:n.-798-32610C>T | |
| ENST00000649464.1:c.214-11460C>T | ENSP00000497966.1:n.214-11460C>T |