Canonical Allele Identifier: CA2580576139
Community Standard Title: NC_000004.12:g.80243569C>G
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.80243569C>G , CM000666.2:g.80243569C>G GRCh38
NC_000004.11:g.81164723C>G , CM000666.1:g.81164723C>G GRCh37
NC_000004.10:g.81383747C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_938930.1:n.186+11283C>G