Canonical Allele Identifier: CA2284239334
Gene:

Linked Data

dbSNP Id: rs1345330756
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.10321228T>G , CM000680.2:g.10321228T>G GRCh38
NC_000018.9:g.10321225T>G , CM000680.1:g.10321225T>G GRCh37
NC_000018.8:g.10311225T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_935138.1:n.665+920A>C
XR_001753344.1:n.650+920A>C
XR_001753345.1:n.893A>C
XR_001753346.1:n.549+920A>C
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