Canonical Allele Identifier: CA701259473
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.80049211A>G , CM000675.2:g.80049211A>G GRCh38
NC_000013.10:g.80623346A>G , CM000675.1:g.80623346A>G GRCh37
NC_000013.9:g.79521347A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_245449.3:n.131+1049T>C
XR_942114.1:n.146+751T>C