Canonical Allele Identifier: CA1963376052
Gene:

Linked Data

dbSNP Id: rs1590627849
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.34759455A>C , CM000673.2:g.34759455A>C GRCh38
NC_000011.9:g.34781002A>C , CM000673.1:g.34781002A>C GRCh37
NC_000011.8:g.34737578A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_428897.2:n.579+4848A>C
XR_931188.1:n.693+4848A>C
XR_931189.1:n.854+4848A>C
XR_931190.1:n.639+4848A>C
XR_931191.1:n.689+4848A>C
XR_001748174.1:n.855+4848A>C
XR_001748176.1:n.1016+4848A>C
XR_002957246.1:n.639+4848A>C
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