Canonical Allele Identifier: CA2346122742
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.2470904G= , CM000682.2:g.2470904G= GRCh38
NC_000020.10:g.2451550G= , CM000682.1:g.2451550G= GRCh37
NC_000020.9:g.2399550G= NCBI36
NG_042057.1:g.4950C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000461548.1:c.305-3146C= ENSP00000456213.1:n.305-3146C=