Canonical Allele Identifier: CA2135545212
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49067772G= , CM000676.2:g.49067772G= GRCh38
NC_000014.8:g.49534490G= , CM000676.1:g.49534490G= GRCh37
NC_000014.7:g.48604240G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_943837.1:n.222+2020C=
XR_943837.2:n.345+2020C=