Canonical Allele Identifier: CA2550070876
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.122395930A>G , CM000670.2:g.122395930A>G GRCh38
NC_000008.10:g.123408169A>G , CM000670.1:g.123408169A>G GRCh37
NC_000008.9:g.123477350A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_928599.1:n.152+3242T>C
XR_928599.3:n.152+3242T>C