Canonical Allele Identifier: CA698828786

Linked Data

dbSNP Id: rs1211605465

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.50620280C>A , CM000675.2:g.50620280C>A GRCh38
NC_000013.10:g.51194416C>A , CM000675.1:g.51194416C>A GRCh37
NC_000013.9:g.50092417C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000651397.1:n.1033+63626G>T (DLEU7)
ENST00000470726.6:n.347-99367C>A (DLEU1)
ENST00000479420.5:n.560-28310C>A (DLEU1)
ENST00000484869.6:n.1330-10997C>A (DLEU1)