Canonical Allele Identifier: CA698828736

Linked Data

dbSNP Id: rs1231069236

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.50620183G>A , CM000675.2:g.50620183G>A GRCh38
NC_000013.10:g.51194319G>A , CM000675.1:g.51194319G>A GRCh37
NC_000013.9:g.50092320G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000651397.1:n.1033+63723C>T (DLEU7)
ENST00000470726.6:n.347-99464G>A (DLEU1)
ENST00000479420.5:n.560-28407G>A (DLEU1)
ENST00000484869.6:n.1330-11094G>A (DLEU1)