How it works: When you submit this form, the reference sequence is checked for placement on the current reference assembly. If it is not placed, an alignment is done on-the-fly using Splign.

If the placement or the alignment is successful, the sequence variant is searched in dbSNP. The matching record, if found, is returned and you can choose to annotate it; otherwise, you can submit it to dbSNP as a new record.

Examples (click to run the example):

• cDNA examples (position 1 is at A of the ATG-translation initiation codon):
  • NM_001234.3:c.123T>C
  • NM_001234.3:c.114+26G>A
  • NM_001234.3:c.115-89G>T
  • NM_000232.3:c.-189A>T
  • NM_033337.1:c.*811C>G
  • NM_000018.2:c.997insT

• cDNA examples (position 1 is at the beginning of the sequence):
  • U14680.1:c.1606A>T
  • U14680.1:c.1850A>T

• Genomic notation examples:
  • NT_011519.10:g.3103420G>A
  • NT_022517.17:g.8715588C>T

• Protein notation examples (both 1-letter and 3-letter protein residue encodings are allowed. Use '*' or 'Ter' for translation termination):
  • NP_001225.1:p.L9L
  • NP_001225.1:p.Leu9Leu
  • NP_009294.1:p.V108M
  • NP_009294.1:p.Val108Met