Canonical Allele Identifier: CA698828791

Linked Data

dbSNP Id: rs1333646433

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.50620288C>A , CM000675.2:g.50620288C>A GRCh38
NC_000013.10:g.51194424C>A , CM000675.1:g.51194424C>A GRCh37
NC_000013.9:g.50092425C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000651397.1:n.1033+63618G>T (DLEU7)
ENST00000470726.6:n.347-99359C>A (DLEU1)
ENST00000479420.5:n.560-28302C>A (DLEU1)
ENST00000484869.6:n.1330-10989C>A (DLEU1)