Canonical Allele Identifier: CA1500739283
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.144601530C= , CM000666.2:g.144601530C= GRCh38
NC_000004.11:g.145522682C= , CM000666.1:g.145522682C= GRCh37
NC_000004.10:g.145742132C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000649263.1:c.328-185552G= ENSP00000497507.1:n.328-185552G=