Canonical Allele Identifier: CA1480021959
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99474302C= , CM000666.2:g.99474302C= GRCh38
NC_000004.11:g.100395459C= , CM000666.1:g.100395459C= GRCh37
NC_000004.10:g.100614482C= NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000506494.1:n.243-2440G=