Canonical Allele Identifier:
CA2467802732
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.641037C>A , CM000686.2:g.641037C>A | GRCh38 |
| NC_000024.9:g.551772C>A , CM000686.1:g.551772C>A | GRCh37 |
| NC_000024.8:g.521772C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000711141.1:c.583C>A | ENSP00000518639.1:p.Arg195= | |
| ENST00000711142.1:c.583C>A | ENSP00000518640.1:p.Arg195= | |
| ENST00000711143.1:c.583C>A | ENSP00000518641.1:p.Arg195= | |
| ENST00000711145.1:c.583C>A | ENSP00000518642.1:p.Arg195= |