Canonical Allele Identifier: CA1480021958
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99474301C= , CM000666.2:g.99474301C= GRCh38
NC_000004.11:g.100395458C= , CM000666.1:g.100395458C= GRCh37
NC_000004.10:g.100614481C= NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000506494.1:n.243-2439G=