Canonical Allele Identifier: CA240383593
Gene:

Linked Data

dbSNP Id: rs541935667
gnomAD v2: 12-85345909-A-T
gnomAD v3: 12-84952130-A-T
gnomAD v4: 12-84952130-A-T
MyVariant Identifiers: chr12:g.85345909A>T (hg19) chr12:g.84952130A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.84952130A>T , CM000674.2:g.84952130A>T GRCh38
NC_000012.11:g.85345909A>T , CM000674.1:g.85345909A>T GRCh37
NC_000012.10:g.83870040A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_945152.1:n.316+30816A>T
XR_945153.1:n.301+13666A>T
XR_945154.1:n.175-36812A>T
XR_945155.1:n.330+30816A>T
XR_945152.2:n.316+30816A>T
XR_945154.2:n.175-36812A>T
XR_945155.2:n.888+30816A>T
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