Canonical Allele Identifier: CA2090971398

Linked Data

dbSNP Id: rs1871533778

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.50620207A>G , CM000675.2:g.50620207A>G GRCh38
NC_000013.10:g.51194343A>G , CM000675.1:g.51194343A>G GRCh37
NC_000013.9:g.50092344A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000651397.1:n.1033+63699T>C (DLEU7)
ENST00000470726.6:n.347-99440A>G (DLEU1)
ENST00000479420.5:n.560-28383A>G (DLEU1)
ENST00000484869.6:n.1330-11070A>G (DLEU1)