Canonical Allele Identifier: CA2090971390

Linked Data

dbSNP Id: rs1871533341

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.50620188C>T , CM000675.2:g.50620188C>T GRCh38
NC_000013.10:g.51194324C>T , CM000675.1:g.51194324C>T GRCh37
NC_000013.9:g.50092325C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000651397.1:n.1033+63718G>A (DLEU7)
ENST00000470726.6:n.347-99459C>T (DLEU1)
ENST00000479420.5:n.560-28402C>T (DLEU1)
ENST00000484869.6:n.1330-11089C>T (DLEU1)