Canonical Allele Identifier: CA2789064278
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94762416C>A , CM000672.2:g.94762416C>A GRCh38
NC_000010.10:g.96522173C>A , CM000672.1:g.96522173C>A GRCh37
NC_000010.9:g.96512163C>A NCBI36
NG_008384.2:g.4711C>A
NG_008384.3:g.4736C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000464755.1:c.932-12642C>A ENSP00000483243.1:n.932-12642C>A