Canonical Allele Identifier:
CA1740470116
Gene:
Linked Data
dbSNP Id:
rs1795646283
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.124306353T>C , CM000669.2:g.124306353T>C | GRCh38 |
| NC_000007.13:g.123946407T>C , CM000669.1:g.123946407T>C | GRCh37 |
| NC_000007.12:g.123733643T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_002956584.1:n.73-125T>C |