Canonical Allele Identifier: CA2047473652
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76615280A>C , CM000674.2:g.76615280A>C GRCh38
NC_000012.11:g.77009060A>C , CM000674.1:g.77009060A>C GRCh37
NC_000012.10:g.75533191A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_945113.1:n.513-23A>C
XR_001749220.1:n.477-23A>C
XR_945113.3:n.532-23A>C