Canonical Allele Identifier: CA2346122753
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.2470926G= , CM000682.2:g.2470926G= GRCh38
NC_000020.10:g.2451572G= , CM000682.1:g.2451572G= GRCh37
NC_000020.9:g.2399572G= NCBI36
NG_042057.1:g.4928C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000461548.1:c.305-3168C= ENSP00000456213.1:n.305-3168C=