Canonical Allele Identifier: CA2346122717
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.2470868G= , CM000682.2:g.2470868G= GRCh38
NC_000020.10:g.2451514G= , CM000682.1:g.2451514G= GRCh37
NC_000020.9:g.2399514G= NCBI36
NG_042057.1:g.4986C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000461548.1:c.305-3110C= ENSP00000456213.1:n.305-3110C=