VEP with HGVS notation
A variant has been identified in a patient presenting with a genetic disorder. We’d like to determine if it is causing the phenotype. The variant is in HGVS notation: 21:g.25606478T>C.
What are the protein HGVS notation(s) for the RefSeq protein(s) affected? (RefSeq identifiers begin NM_ or NP_)
Enter 21:g.25606478T>C into the Paste data field. Under Transcript database to use, select RefSeq transcripts. Under Identifiers, select HGVS.
Hit Run.
There are many HGVS notations listed, two of which include RefSeq protein identifiers:
NP_059142.3:p.Asn84SerandNP_542984.3:p.Asn84Ser.
