Canonical Allele Identifier: CA2346122811
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.2471007C= , CM000682.2:g.2471007C= GRCh38
NC_000020.10:g.2451653C= , CM000682.1:g.2451653C= GRCh37
NC_000020.9:g.2399653C= NCBI36
NG_042057.1:g.4847G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000461548.1:c.305-3249G= ENSP00000456213.1:n.305-3249G=