Canonical Allele Identifier: CA1365145681
Gene:

Linked Data

dbSNP Id: rs1700429002
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.53057146C>A , CM000665.2:g.53057146C>A GRCh38
NC_000003.11:g.53091162C>A , CM000665.1:g.53091162C>A GRCh37
NC_000003.10:g.53066202C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000607203.1:c.318-9907G>T
ENST00000607283.5:c.465-13892G>T
ENST00000607495.5:c.447+20542G>T
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