Canonical Allele Identifier: CA2541487050
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.126999628T>C , CM000670.2:g.126999628T>C GRCh38
NC_000008.10:g.128011873T>C , CM000670.1:g.128011873T>C GRCh37
NC_000008.9:g.128081055T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001746076.2:n.1301-6927T>C