Canonical Allele Identifier: CA16329985
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24924066G>C , CM000670.2:g.24924066G>C GRCh38
NC_000008.10:g.24781579G>C , CM000670.1:g.24781579G>C GRCh37
NC_000008.9:g.24837484G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_949590.1:n.42+524C>G
XR_002956698.1:n.42+524C>G