Canonical Allele Identifier: CA2221132875
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.49108771G= , CM000678.2:g.49108771G= GRCh38
NC_000016.9:g.49142682G= , CM000678.1:g.49142682G= GRCh37
NC_000016.8:g.47700183G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_933517.1:n.810+1173C=
XR_001752138.2:n.591+5205C=
XR_933517.2:n.810+1173C=