Canonical Allele Identifier: CA775632430
Gene:

Linked Data

dbSNP Id: rs1390268143
gnomAD v3: 17-8137796-T-C
gnomAD v4: 17-8137796-T-C
MyVariant Identifiers: chr17:g.8041114T>C (hg19) chr17:g.8137796T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8137796T>C , CM000679.2:g.8137796T>C GRCh38
NC_000017.10:g.8041114T>C , CM000679.1:g.8041114T>C GRCh37
NC_000017.9:g.7981839T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_934202.1:n.183-1053T>C
XR_934203.1:n.70-1681T>C
XR_934202.2:n.414-1053T>C
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