Canonical Allele Identifier: CA287548446
Gene:

Linked Data

dbSNP Id: rs890281165
gnomAD v3: 17-8137242-C-T
gnomAD v4: 17-8137242-C-T
MyVariant Identifiers: chr17:g.8040560C>T (hg19) chr17:g.8137242C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8137242C>T , CM000679.2:g.8137242C>T GRCh38
NC_000017.10:g.8040560C>T , CM000679.1:g.8040560C>T GRCh37
NC_000017.9:g.7981285C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_934202.1:n.183-1607C>T
XR_934203.1:n.70-2235C>T
XR_934202.2:n.414-1607C>T
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