Canonical Allele Identifier:
CA2548836512
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.34759341G>T , CM000673.2:g.34759341G>T | GRCh38 |
| NC_000011.9:g.34780888G>T , CM000673.1:g.34780888G>T | GRCh37 |
| NC_000011.8:g.34737464G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_428897.2:n.579+4734G>T | ||
| XR_931188.1:n.693+4734G>T | ||
| XR_931189.1:n.854+4734G>T | ||
| XR_931190.1:n.639+4734G>T | ||
| XR_931191.1:n.689+4734G>T | ||
| XR_001748174.1:n.855+4734G>T | ||
| XR_001748176.1:n.1016+4734G>T | ||
| XR_002957246.1:n.639+4734G>T |