Canonical Allele Identifier: CA1330378990
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.221936980C>G , CM000664.2:g.221936980C>G GRCh38
NC_000002.11:g.222801699C>G , CM000664.1:g.222801699C>G GRCh37
NC_000002.10:g.222509943C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_923944.1:n.184+23685G>C
XR_923944.2:n.195+23685G>C