Canonical Allele Identifier: CA12038075
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.142099500A>C , CM000667.2:g.142099500A>C GRCh38
NC_000005.9:g.141479065A>C , CM000667.1:g.141479065A>C GRCh37
NC_000005.8:g.141459249A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_944368.1:n.87-1192T>G
XR_944368.2:n.164-1192T>G