Canonical Allele Identifier: CA2090971436

Linked Data

dbSNP Id: rs1871535469

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.50620305C>G , CM000675.2:g.50620305C>G GRCh38
NC_000013.10:g.51194441C>G , CM000675.1:g.51194441C>G GRCh37
NC_000013.9:g.50092442C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000651397.1:n.1033+63601G>C (DLEU7)
ENST00000470726.6:n.347-99342C>G (DLEU1)
ENST00000479420.5:n.560-28285C>G (DLEU1)
ENST00000484869.6:n.1330-10972C>G (DLEU1)