Canonical Allele Identifier: CA2049072498
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.80069257C= , CM000674.2:g.80069257C= GRCh38
NC_000012.11:g.80463037C= , CM000674.1:g.80463037C= GRCh37
NC_000012.10:g.78987168C= NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_945140.1:n.456+8075C=
XR_945141.1:n.1758+8075C=