Canonical Allele Identifier:
CA1751418954
Gene:
Linked Data
dbSNP Id:
rs1801693723
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.148807192T>G , CM000669.2:g.148807192T>G | GRCh38 |
| NC_000007.13:g.148504284T>G , CM000669.1:g.148504284T>G | GRCh37 |
| NC_000007.12:g.148135217T>G | NCBI36 |
| NG_032043.1:g.82158A>C , LRG_531:g.82158A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_928101.1:n.515+2107T>G | ||
| XR_928102.1:n.722+2107T>G |