Canonical Allele Identifier: CA2346122727
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.2470881G= , CM000682.2:g.2470881G= GRCh38
NC_000020.10:g.2451527G= , CM000682.1:g.2451527G= GRCh37
NC_000020.9:g.2399527G= NCBI36
NG_042057.1:g.4973C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000461548.1:c.305-3123C= ENSP00000456213.1:n.305-3123C=