Canonical Allele Identifier: CA2049072435
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.80069100C= , CM000674.2:g.80069100C= GRCh38
NC_000012.11:g.80462880C= , CM000674.1:g.80462880C= GRCh37
NC_000012.10:g.78987011C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_945140.1:n.456+7918C=
XR_945141.1:n.1758+7918C=