Canonical Allele Identifier: CA220467174
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.35071523A>G , CM000673.2:g.35071523A>G GRCh38
NC_000011.9:g.35093070A>G , CM000673.1:g.35093070A>G GRCh37
NC_000011.8:g.35049646A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001748182.1:n.41+2394T>C