Canonical Allele Identifier: CA181547501
Gene:

Linked Data

dbSNP Id: rs558964214
gnomAD v3: 8-88535736-T-C
gnomAD v4: 8-88535736-T-C
MyVariant Identifiers: chr8:g.89547965T>C (hg19) chr8:g.88535736T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.88535736T>C , CM000670.2:g.88535736T>C GRCh38
NC_000008.10:g.89547965T>C , CM000670.1:g.89547965T>C GRCh37
NC_000008.9:g.89617081T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_001745651.2:n.1673+10781A>G
XR_001745653.2:n.286-6944T>C
XR_928383.3:n.1475+10781A>G
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