Canonical Allele Identifier: CA2246165942
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8137697C= , CM000679.2:g.8137697C= GRCh38
NC_000017.10:g.8041015C= , CM000679.1:g.8041015C= GRCh37
NC_000017.9:g.7981740C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_934202.1:n.183-1152C=
XR_934203.1:n.70-1780C=
XR_934202.2:n.414-1152C=