Canonical Allele Identifier:
CA2840496376
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.56262285C>T , CM000663.2:g.56262285C>T | GRCh38 |
| NC_000001.10:g.56727957C>T , CM000663.1:g.56727957C>T | GRCh37 |
| NC_000001.9:g.56500545C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000641109.1:c.760-13085G>A | ENSP00000493138.1:n.760-13085G>A | |
| ENST00000641346.1:c.367-13085G>A | ||
| ENST00000641415.1:c.193-8392G>A | ||
| ENST00000641494.1:c.379-13085G>A | ||
| ENST00000642129.1:c.769-13085G>A |