Canonical Allele Identifier: CA2839103373
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.56900027A>G , CM000667.2:g.56900027A>G GRCh38
NC_000005.9:g.56195854A>G , CM000667.1:g.56195854A>G GRCh37
NC_000005.8:g.56231611A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_948346.1:n.83-1731T>C
XR_948347.1:n.46T>C
XR_948347.3:n.376T>C