Canonical Allele Identifier: CA2246166011
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8137862C= , CM000679.2:g.8137862C= GRCh38
NC_000017.10:g.8041180C= , CM000679.1:g.8041180C= GRCh37
NC_000017.9:g.7981905C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_934202.1:n.183-987C=
XR_934203.1:n.70-1615C=
XR_934202.2:n.414-987C=