Canonical Allele Identifier: CA241972483
Gene:

Linked Data

dbSNP Id: rs996214894
gnomAD v2: 12-93686853-C-T
gnomAD v3: 12-93293077-C-T
gnomAD v4: 12-93293077-C-T
MyVariant Identifiers: chr12:g.93686853C>T (hg19) chr12:g.93293077C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.93293077C>T , CM000674.2:g.93293077C>T GRCh38
NC_000012.11:g.93686853C>T , CM000674.1:g.93686853C>T GRCh37
NC_000012.10:g.92210984C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_040096.1:n.329+34950G>A
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Search 100 bp 3'