Validator

Input Variant Description

Enter variant description in HGVS format or in VCF format (into the NavBar form) which can be demonstrated by clicking one of the links below:

• NM_000088.3:c.589G>T
• NC_000017.10:g.48275363C>A
• NG_007400.1:g.8638G>T
• LRG_1:g.8638G>T
• LRG_1t1:c.589G>T
• 17-50198002-C-A
• 17:50198002:C:A
• GRCh38:17:50198002:C:A
• chr17:50198002C>A
• chr17:g.50198002C>A
• chr17(GRCh38):g.50198002C>A

Additional transcript selection options

• mane_select = MANE Select transcripts only
• mane = MANE Select and MANE Plus Clinical transcripts
• select = All select transcripts (MANE, RefSeq)
• refseq_select = RefSeq Select transcripts only