Canonical Allele Identifier: CA1002003926
Gene:

Linked Data

dbSNP Id: rs1644496855
gnomAD v3: 1-56262246-G-T
gnomAD v4: 1-56262246-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.56262246G>T , CM000663.2:g.56262246G>T GRCh38
NC_000001.10:g.56727918G>T , CM000663.1:g.56727918G>T GRCh37
NC_000001.9:g.56500506G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000641109.1:c.760-13046C>A ENSP00000493138.1:n.760-13046C>A
ENST00000641346.1:c.367-13046C>A
ENST00000641415.1:c.193-8353C>A
ENST00000641494.1:c.379-13046C>A
ENST00000642129.1:c.769-13046C>A
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