Canonical Allele Identifier:
CA1689284572
Gene:
Linked Data
dbSNP Id:
rs1021581488
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.13514148C>A , CM000669.2:g.13514148C>A | GRCh38 |
| NC_000007.13:g.13553773C>A , CM000669.1:g.13553773C>A | GRCh37 |
| NC_000007.12:g.13520298C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001745097.1:n.148-188168C>A |