Canonical Allele Identifier: CA2838159503
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49067707G>T , CM000676.2:g.49067707G>T GRCh38
NC_000014.8:g.49534425G>T , CM000676.1:g.49534425G>T GRCh37
NC_000014.7:g.48604175G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_943837.1:n.222+2085C>A
XR_943837.2:n.345+2085C>A