Canonical Allele Identifier: CA1689285088
Gene:

Linked Data

dbSNP Id: rs1780385188

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.13514479A>G , CM000669.2:g.13514479A>G GRCh38
NC_000007.13:g.13554104A>G , CM000669.1:g.13554104A>G GRCh37
NC_000007.12:g.13520629A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001745097.1:n.148-187837A>G