Canonical Allele Identifier: CA14856169
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.15440233C>A , CM000683.2:g.15440233C>A GRCh38
NC_000021.8:g.16812552C>A , CM000683.1:g.16812552C>A GRCh37
NC_000021.7:g.15734423C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_937593.1:n.552+993G>T
XR_001754965.2:n.468+3791G>T
XR_001754970.2:n.468+3791G>T
XR_001754971.2:n.468+3791G>T