Canonical Allele Identifier: CA942311056
Gene:

Linked Data

dbSNP Id: rs1866726679
gnomAD v3: 11-112166667-T-C
gnomAD v4: 11-112166667-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112166667T>C , CM000673.2:g.112166667T>C GRCh38
NC_000011.9:g.112037390T>C , CM000673.1:g.112037390T>C GRCh37
NC_000011.8:g.111542600T>C NCBI36
NG_028143.1:g.2451A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000525987.5:n.320-3752T>C
ENST00000531744.5:c.315-3752T>C ENSP00000456957.1:n.315-3752T>C
ENST00000532699.1:c.315-3752T>C ENSP00000456434.1:n.315-3752T>C
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