Canonical Allele Identifier: CA1010999818
Gene:

Linked Data

dbSNP Id: rs1658970906
gnomAD v3: 1-198500123-G-A
gnomAD v4: 1-198500123-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.198500123G>A , CM000663.2:g.198500123G>A GRCh38
NC_000001.10:g.198469253G>A , CM000663.1:g.198469253G>A GRCh37
NC_000001.9:g.196735876G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_922398.1:n.679+19428C>T
XR_922398.2:n.341+19428C>T
Search 100 bp 5'
Search 100 bp 3'