Canonical Allele Identifier: CA1601790186
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173507895C>G , CM000667.2:g.173507895C>G GRCh38
NC_000005.9:g.172934898C>G , CM000667.1:g.172934898C>G GRCh37
NC_000005.8:g.172867504C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_941238.1:n.5641+305C>G
XR_941239.1:n.3602+305C>G
XR_941240.1:n.5497+305C>G
XR_941241.1:n.3078+305C>G
XR_941242.1:n.5391+305C>G
XR_941243.1:n.5568+305C>G
XR_941244.1:n.2883+305C>G
XR_941246.1:n.5261+305C>G
XR_001743000.1:n.3529+305C>G
XR_001743001.1:n.3056+305C>G
XR_002956234.1:n.5200+305C>G