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  • thedamian
    Member
    • Feb 2012
    • 50

    HGVS to hg19 conversion

    Hi,

    Is there any command line tool or method that allow for an easy translation from HGVS to hg19 coordinates?
    for example:

    as an inptu I'd like to provde: NM_001100.3:c.7G>T and the output should be like hg19:229568857:229568858.

    Thanks in advance
  • BAMseek
    Senior Member
    • Apr 2011
    • 124

    #2
    Take a look at Mutalyzer . I copied and pasted "NM_001100.3:c.7G>T" into the box and get NC_000001.10:g.229568856C>A as the result.

    Justin

    Comment

    • thedamian
      Member
      • Feb 2012
      • 50

      #3
      Seems promising. I will examine Web Serivices they provide.
      Thank you

      Comment

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