Canonical Allele Identifier:
CA12550502
Community Standard Title: NC_000007.14:g.148560956G>C
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.148560956G>C , CM000669.2:g.148560956G>C | GRCh38 |
| NC_000007.13:g.148258048G>C , CM000669.1:g.148258048G>C | GRCh37 |
| NC_000007.12:g.147888981G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XR_928099.1:n.300+7144C>G | |
| XR_928100.1:n.433+7144C>G |