Canonical Allele Identifier: CA1480022488
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99475533G= , CM000666.2:g.99475533G= GRCh38
NC_000004.11:g.100396690G= , CM000666.1:g.100396690G= GRCh37
NC_000004.10:g.100615713G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000506494.1:n.242+1215C=