Canonical Allele Identifier:
CA2206404248
Gene:
Linked Data
dbSNP Id:
rs1355292648
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.9249630C>A , CM000678.2:g.9249630C>A | GRCh38 |
| NC_000016.9:g.9343487C>A , CM000678.1:g.9343487C>A | GRCh37 |
| NC_000016.8:g.9250988C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_933054.1:n.70+64897C>A |