Canonical Allele Identifier: CA2470689107
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.14941891C= , CM000686.2:g.14941891C= GRCh38
NC_000024.9:g.17053771C= , CM000686.1:g.17053771C= GRCh37
NC_000024.8:g.15563165C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000427212.2:n.76+70C=