Canonical Allele Identifier: CA2284269235
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.10382718C= , CM000680.2:g.10382718C= GRCh38
NC_000018.9:g.10382715C= , CM000680.1:g.10382715C= GRCh37
NC_000018.8:g.10372715C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_935143.1:n.919+1365C=