Canonical Allele Identifier:
CA2504319738
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.34759376G>T , CM000673.2:g.34759376G>T | GRCh38 |
| NC_000011.9:g.34780923G>T , CM000673.1:g.34780923G>T | GRCh37 |
| NC_000011.8:g.34737499G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_428897.2:n.579+4769G>T | ||
| XR_931188.1:n.693+4769G>T | ||
| XR_931189.1:n.854+4769G>T | ||
| XR_931190.1:n.639+4769G>T | ||
| XR_931191.1:n.689+4769G>T | ||
| XR_001748174.1:n.855+4769G>T | ||
| XR_001748176.1:n.1016+4769G>T | ||
| XR_002957246.1:n.639+4769G>T |