Canonical Allele Identifier: CA300391544
Gene:

Linked Data

dbSNP Id: rs1057477125
gnomAD v3: 18-49645855-A-C
gnomAD v4: 18-49645855-A-C
MyVariant Identifiers: chr18:g.47172225A>C (hg19) chr18:g.49645855A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.49645855A>C , CM000680.2:g.49645855A>C GRCh38
NC_000018.9:g.47172225A>C , CM000680.1:g.47172225A>C GRCh37
NC_000018.8:g.45426223A>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_935461.1:n.162-16179A>C
XR_001753446.1:n.898-16179A>C
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