Canonical Allele Identifier: CA119097013
Gene:

Linked Data

dbSNP Id: rs934440207
gnomAD v4: 5-56899964-T-C
MyVariant Identifiers: chr5:g.56195791T>C (hg19) chr5:g.56899964T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.56899964T>C , CM000667.2:g.56899964T>C GRCh38
NC_000005.9:g.56195791T>C , CM000667.1:g.56195791T>C GRCh37
NC_000005.8:g.56231548T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_948346.1:n.83-1668A>G
XR_948347.1:n.76+33A>G
XR_948347.3:n.406+33A>G
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