Canonical Allele Identifier: CA1816081144
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.122395710G= , CM000670.2:g.122395710G= GRCh38
NC_000008.10:g.123407949G= , CM000670.1:g.123407949G= GRCh37
NC_000008.9:g.123477130G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_928599.1:n.152+3462C=
XR_928599.3:n.152+3462C=