Canonical Allele Identifier: CA2346122779
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.2470966C= , CM000682.2:g.2470966C= GRCh38
NC_000020.10:g.2451612C= , CM000682.1:g.2451612C= GRCh37
NC_000020.9:g.2399612C= NCBI36
NG_042057.1:g.4888G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000461548.1:c.305-3208G= ENSP00000456213.1:n.305-3208G=