Canonical Allele Identifier: CA2598390944
Gene:

Linked Data

dbSNP Id: rs2100425047
gnomAD v3: 1-56262165-T-A
gnomAD v4: 1-56262165-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.56262165T>A , CM000663.2:g.56262165T>A GRCh38
NC_000001.10:g.56727837T>A , CM000663.1:g.56727837T>A GRCh37
NC_000001.9:g.56500425T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000641109.1:c.760-12965A>T ENSP00000493138.1:n.760-12965A>T
ENST00000641346.1:c.367-12965A>T
ENST00000641415.1:c.193-8272A>T
ENST00000641494.1:c.379-12965A>T
ENST00000642129.1:c.769-12965A>T
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