Canonical Allele Identifier: CA2346122801
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.2470994G= , CM000682.2:g.2470994G= GRCh38
NC_000020.10:g.2451640G= , CM000682.1:g.2451640G= GRCh37
NC_000020.9:g.2399640G= NCBI36
NG_042057.1:g.4860C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000461548.1:c.305-3236C= ENSP00000456213.1:n.305-3236C=