Canonical Allele Identifier: CA2049072521
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.80069309C= , CM000674.2:g.80069309C= GRCh38
NC_000012.11:g.80463089C= , CM000674.1:g.80463089C= GRCh37
NC_000012.10:g.78987220C= NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_945140.1:n.456+8127C=
XR_945141.1:n.1758+8127C=