Canonical Allele Identifier:
CA2500692451
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99474279A>G , CM000666.2:g.99474279A>G | GRCh38 |
| NC_000004.11:g.100395436A>G , CM000666.1:g.100395436A>G | GRCh37 |
| NC_000004.10:g.100614459A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000506494.1:n.243-2417T>C |