Canonical Allele Identifier: CA2581514623
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.114513597C>G , CM000667.2:g.114513597C>G GRCh38
NC_000005.9:g.113849294C>G , CM000667.1:g.113849294C>G GRCh37
NC_000005.8:g.113877193C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_130785.1:n.343-17419G>C