Canonical Allele Identifier: CA2723657695
Gene:

Linked Data

dbSNP Id: rs2134342193
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.34812295T>C , CM000673.2:g.34812295T>C GRCh38
NC_000011.9:g.34833842T>C , CM000673.1:g.34833842T>C GRCh37
NC_000011.8:g.34790418T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_428897.2:n.579+57688T>C
XR_931188.1:n.693+57688T>C
XR_931189.1:n.854+57688T>C
XR_931190.1:n.639+57688T>C
XR_931191.1:n.689+57688T>C
XR_001748174.1:n.855+57688T>C
XR_001748176.1:n.1016+57688T>C
XR_002957246.1:n.639+57688T>C
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