Canonical Allele Identifier: CA729866083
Gene:

Linked Data

dbSNP Id: rs1204141876
gnomAD v3: 1-198500107-T-C
gnomAD v4: 1-198500107-T-C
MyVariant Identifiers: chr1:g.198469237T>C (hg19) chr1:g.198500107T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.198500107T>C , CM000663.2:g.198500107T>C GRCh38
NC_000001.10:g.198469237T>C , CM000663.1:g.198469237T>C GRCh37
NC_000001.9:g.196735860T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_922398.1:n.679+19444A>G
XR_922398.2:n.341+19444A>G
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