Canonical Allele Identifier: CA16557411
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.49640844T>C , CM000680.2:g.49640844T>C GRCh38
NC_000018.9:g.47167214T>C , CM000680.1:g.47167214T>C GRCh37
NC_000018.8:g.45421212T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_935461.1:n.162-21190T>C
XR_001753446.1:n.898-21190T>C