Canonical Allele Identifier: CA2769120072
Gene:
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.159581044C>A , CM000667.2:g.159581044C>A GRCh38
NC_000005.9:g.159008051C>A , CM000667.1:g.159008051C>A GRCh37
NC_000005.8:g.158940629C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_941139.1:n.2075+609C>A
XR_941140.1:n.2075+609C>A
XR_941141.1:n.570+609C>A
XR_941139.2:n.2229+609C>A
Search 100 bp 5'
Search 100 bp 3'