Canonical Allele Identifier: CA2072411485
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.131529584T= , CM000674.2:g.131529584T= GRCh38
NC_000012.11:g.132014129T= , CM000674.1:g.132014129T= GRCh37
NC_000012.10:g.130580082T= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_945564.1:n.1076+191A=
XR_001749407.2:n.1067+191A=