Canonical Allele Identifier: CA1818087105
Community Standard Title: NC_000008.11:g.126912414C>G
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.126912414C>G , CM000670.2:g.126912414C>G GRCh38
NC_000008.10:g.127924659C>G , CM000670.1:g.127924659C>G GRCh37
NC_000008.9:g.127993841C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001746076.2:n.1300+34624C>G