Canonical Allele Identifier: CA2090971417

Linked Data

dbSNP Id: rs1593499021

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.50620273T>G , CM000675.2:g.50620273T>G GRCh38
NC_000013.10:g.51194409T>G , CM000675.1:g.51194409T>G GRCh37
NC_000013.9:g.50092410T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000651397.1:n.1033+63633A>C (DLEU7)
ENST00000470726.6:n.347-99374T>G (DLEU1)
ENST00000479420.5:n.560-28317T>G (DLEU1)
ENST00000484869.6:n.1330-11004T>G (DLEU1)