Canonical Allele Identifier: CA727901076
Gene:

Linked Data

dbSNP Id: rs1390921013
gnomAD v3: 17-30237307-G-C
gnomAD v4: 17-30237307-G-C
MyVariant Identifiers: chr17:g.28564325G>C (hg19) chr17:g.30237307G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.30237307G>C , CM000679.2:g.30237307G>C GRCh38
NC_000017.10:g.28564325G>C , CM000679.1:g.28564325G>C GRCh37
NC_000017.9:g.25588451G>C NCBI36
NG_011747.2:g.3630C>G

Transcript Alleles

HGVS Amino-acid Change
XR_934654.1:n.165+237G>C
XR_001752824.1:n.280+237G>C
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