Canonical Allele Identifier:
CA1751418989
Gene:
Linked Data
dbSNP Id:
rs1801703064
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.148807222A>C , CM000669.2:g.148807222A>C | GRCh38 |
| NC_000007.13:g.148504314A>C , CM000669.1:g.148504314A>C | GRCh37 |
| NC_000007.12:g.148135247A>C | NCBI36 |
| NG_032043.1:g.82128T>G , LRG_531:g.82128T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_928101.1:n.515+2137A>C | ||
| XR_928102.1:n.722+2137A>C |