Canonical Allele Identifier:
CA913256583
Gene:
Linked Data
gnomAD v2:
1-56727912-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.56262240T>C , CM000663.2:g.56262240T>C | GRCh38 |
| NC_000001.10:g.56727912T>C , CM000663.1:g.56727912T>C | GRCh37 |
| NC_000001.9:g.56500500T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000641109.1:c.760-13040A>G | ENSP00000493138.1:n.760-13040A>G | |
| ENST00000641346.1:c.367-13040A>G | ||
| ENST00000641415.1:c.193-8347A>G | ||
| ENST00000641494.1:c.379-13040A>G | ||
| ENST00000642129.1:c.769-13040A>G |