The Variation Viewer tool reports human variations (short variants and also large structural variants) mapped on the GRCh37p13 and GRCh38 assemblies. Its graphic interface allows you to interactively explore variants associated with genes and individual transcripts that are annotated on the assemblies. Additionally, Variation Viewer allows you to download data.

Starting with a Gene record is a convenient way to access Variation Viewer:

  • Locate the record in the Gene database (example).
  • From the Related information section on the right side of the page, select a Variation Viewer link.
  • The Variation Viewer page (example) will display the variation information for the linked gene.
  • To learn how to manipulate the display and to download the data see: