Canonical Allele Identifier: CA1002003906
Gene:

Linked Data

dbSNP Id: rs1644496468
gnomAD v3: 1-56262137-T-C
gnomAD v4: 1-56262137-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.56262137T>C , CM000663.2:g.56262137T>C GRCh38
NC_000001.10:g.56727809T>C , CM000663.1:g.56727809T>C GRCh37
NC_000001.9:g.56500397T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000641109.1:c.760-12937A>G ENSP00000493138.1:n.760-12937A>G
ENST00000641346.1:c.367-12937A>G
ENST00000641415.1:c.193-8244A>G
ENST00000641494.1:c.379-12937A>G
ENST00000642129.1:c.769-12937A>G
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