Canonical Allele Identifier: CA2778867718
Gene:
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.5907274C>G , CM000670.2:g.5907274C>G GRCh38
NC_000008.10:g.5764796C>G , CM000670.1:g.5764796C>G GRCh37
NC_000008.9:g.5752204C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_941374.1:n.308-7543G>C
XR_941375.1:n.308-7543G>C
XR_941376.1:n.406-7543G>C
XR_941377.1:n.308-7543G>C
XR_941378.1:n.216-7543G>C
XR_001745765.1:n.308-7543G>C
XR_001745766.1:n.406-7543G>C
XR_001745767.1:n.216-7543G>C
XR_001745768.1:n.308-7543G>C
XR_941374.2:n.308-7543G>C
XR_941375.2:n.308-7543G>C
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