Mastermind supports GRCh37 and GRCh38 searches for SNVs/indels. Variants can be entered directly in the search box as shown below in GRCh37 and GRCh38, respectively:
NC_000001.10:g.94508323G>A
NC_000001.11:g.94042767G>A
To search for genomic coordinates in Mastermind, enter them in the search bar with the appropriate sequence identifier or modify the URL directly as in the link below:
A”>https://mastermind.genomenon.com/detail?mutation=:g.94508323G>A
where can be taken from the list below and substituted into the URL.
For example, a search on chromosome 1 in build GRCh37/hg19 would look like this:
A”>https://mastermind.genomenon.com/detail?mutation=NC_000004.11:g.94508323G>A
Searching by genomic coordinates will list references for variants mapped to alternate transcripts. We recommend adding the gene of interest as another search term to reduce off-target matches.