Canonical Allele Identifier: CA1723810380
Gene:

Linked Data

dbSNP Id: rs1840054993

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87913788G>A , CM000669.2:g.87913788G>A GRCh38
NC_000007.13:g.87543103G>A , CM000669.1:g.87543103G>A GRCh37
NC_000007.12:g.87381039G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_927723.1:n.148+113C>T
XR_927724.1:n.192+113C>T