Canonical Allele Identifier: CA289293380
Gene:

Linked Data

dbSNP Id: rs868515777
gnomAD v3: 17-30237305-T-C
gnomAD v4: 17-30237305-T-C
MyVariant Identifiers: chr17:g.28564323T>C (hg19) chr17:g.30237305T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.30237305T>C , CM000679.2:g.30237305T>C GRCh38
NC_000017.10:g.28564323T>C , CM000679.1:g.28564323T>C GRCh37
NC_000017.9:g.25588449T>C NCBI36
NG_011747.2:g.3632A>G

Transcript Alleles

HGVS Amino-acid Change
XR_934654.1:n.165+235T>C
XR_001752824.1:n.280+235T>C
Search 100 bp 5'
Search 100 bp 3'