Canonical Allele Identifier: CA812366331
Gene:

Linked Data

dbSNP Id: rs1252895545
gnomAD v3: 5-56899990-T-G
gnomAD v4: 5-56899990-T-G
MyVariant Identifiers: chr5:g.56195817T>G (hg19) chr5:g.56899990T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.56899990T>G , CM000667.2:g.56899990T>G GRCh38
NC_000005.9:g.56195817T>G , CM000667.1:g.56195817T>G GRCh37
NC_000005.8:g.56231574T>G NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_948346.1:n.83-1694A>C
XR_948347.1:n.76+7A>C
XR_948347.3:n.406+7A>C
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