Canonical Allele Identifier: CA2778867732
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.5907379T>C , CM000670.2:g.5907379T>C GRCh38
NC_000008.10:g.5764901T>C , CM000670.1:g.5764901T>C GRCh37
NC_000008.9:g.5752309T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_941374.1:n.308-7648A>G
XR_941375.1:n.308-7648A>G
XR_941376.1:n.406-7648A>G
XR_941377.1:n.308-7648A>G
XR_941378.1:n.216-7648A>G
XR_001745765.1:n.308-7648A>G
XR_001745766.1:n.406-7648A>G
XR_001745767.1:n.216-7648A>G
XR_001745768.1:n.308-7648A>G
XR_941374.2:n.308-7648A>G
XR_941375.2:n.308-7648A>G