Canonical Allele Identifier:
CA2072411459
Gene:
Linked Data
dbSNP Id:
rs1953651564
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.131529529T>C , CM000674.2:g.131529529T>C | GRCh38 |
| NC_000012.11:g.132014074T>C , CM000674.1:g.132014074T>C | GRCh37 |
| NC_000012.10:g.130580027T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_945564.1:n.1076+246A>G | ||
| XR_001749407.2:n.1067+246A>G |