Canonical Allele Identifier: CA1816081132
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.122395680G= , CM000670.2:g.122395680G= GRCh38
NC_000008.10:g.123407919G= , CM000670.1:g.123407919G= GRCh37
NC_000008.9:g.123477100G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_928599.1:n.152+3492C=
XR_928599.3:n.152+3492C=