Canonical Allele Identifier:
CA2467802748
Community Standard Title: NC_000024.10:g.641051C>T
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.641051C>T , CM000686.2:g.641051C>T | GRCh38 |
| NC_000024.9:g.551786C>T , CM000686.1:g.551786C>T | GRCh37 |
| NC_000024.8:g.521786C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000711141.1:c.597C>T | ENSP00000518639.1:p.Tyr199= |
| ENST00000711142.1:c.597C>T | ENSP00000518640.1:p.Tyr199= |
| ENST00000711143.1:c.597C>T | ENSP00000518641.1:p.Tyr199= |
| ENST00000711145.1:c.597C>T | ENSP00000518642.1:p.Tyr199= |