Canonical Allele Identifier: CA2135545180
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49067719C= , CM000676.2:g.49067719C= GRCh38
NC_000014.8:g.49534437C= , CM000676.1:g.49534437C= GRCh37
NC_000014.7:g.48604187C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_943837.1:n.222+2073G=
XR_943837.2:n.345+2073G=