Canonical Allele Identifier: CA1596629139
Gene:

Linked Data

dbSNP Id: rs1318053609

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.162656564A>C , CM000667.2:g.162656564A>C GRCh38
NC_000005.9:g.162083570A>C , CM000667.1:g.162083570A>C GRCh37
NC_000005.8:g.162016148A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001742958.1:n.418+3538T>G