Canonical Allele Identifier: CA1096565223
Gene:

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.160668701A>G , CM000668.2:g.160668701A>G GRCh38
NC_000006.11:g.161089733A>G , CM000668.1:g.161089733A>G GRCh37
NC_000006.10:g.161009723A>G NCBI36
NG_016147.1:g.2675T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000452651.1:n.115-2328T>C