Canonical Allele Identifier:
CA2059285082
Gene:
Linked Data
dbSNP Id:
rs1592850316
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102501516T>C , CM000674.2:g.102501516T>C | GRCh38 |
| NC_000012.11:g.102895294T>C , CM000674.1:g.102895294T>C | GRCh37 |
| NC_000012.10:g.101419424T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001749289.1:n.1952+17628T>C |