Canonical Allele Identifier:
CA2580581566
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.54226459T>G , CM000666.2:g.54226459T>G | GRCh38 |
| NC_000004.11:g.55092626T>G , CM000666.1:g.55092626T>G | GRCh37 |
| NC_000004.10:g.54787383T>G | NCBI36 |
| NG_009250.1:g.2363T>G , LRG_309:g.2363T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000507166.5:c.1018-48466T>G | ENSP00000423325.1:n.1018-48466T>G |