Canonical Allele Identifier: CA1816697747
Gene:

Linked Data

dbSNP Id: rs1814530247

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.123753564T>C , CM000670.2:g.123753564T>C GRCh38
NC_000008.10:g.124765804T>C , CM000670.1:g.124765804T>C GRCh37
NC_000008.9:g.124834985T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_928607.1:n.153-11219T>C
XR_928607.3:n.324-11219T>C