Canonical Allele Identifier:
CA1689218249
Gene:
Linked Data
dbSNP Id:
rs1783119386
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.13400680A>C , CM000669.2:g.13400680A>C | GRCh38 |
| NC_000007.13:g.13440305A>C , CM000669.1:g.13440305A>C | GRCh37 |
| NC_000007.12:g.13406830A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001745097.1:n.147+90357A>C |