Canonical Allele Identifier: CA287548454
Gene:

Linked Data

dbSNP Id: rs974474014
gnomAD v2: 17-8040573-T-C
gnomAD v3: 17-8137255-T-C
gnomAD v4: 17-8137255-T-C
MyVariant Identifiers: chr17:g.8040573T>C (hg19) chr17:g.8137255T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8137255T>C , CM000679.2:g.8137255T>C GRCh38
NC_000017.10:g.8040573T>C , CM000679.1:g.8040573T>C GRCh37
NC_000017.9:g.7981298T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_934202.1:n.183-1594T>C
XR_934203.1:n.70-2222T>C
XR_934202.2:n.414-1594T>C
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