Canonical Allele Identifier: CA2598390945
Gene:

Linked Data

dbSNP Id: rs1644496735
gnomAD v3: 1-56262214-C-G
gnomAD v4: 1-56262214-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.56262214C>G , CM000663.2:g.56262214C>G GRCh38
NC_000001.10:g.56727886C>G , CM000663.1:g.56727886C>G GRCh37
NC_000001.9:g.56500474C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000641109.1:c.760-13014G>C ENSP00000493138.1:n.760-13014G>C
ENST00000641346.1:c.367-13014G>C
ENST00000641415.1:c.193-8321G>C
ENST00000641494.1:c.379-13014G>C
ENST00000642129.1:c.769-13014G>C
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