Canonical Allele Identifier: CA1004594196
Gene:

Linked Data

dbSNP Id: rs2101121055
gnomAD v3: 1-94587827-C-T
gnomAD v4: 1-94587827-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94587827C>T , CM000663.2:g.94587827C>T GRCh38
NC_000001.10:g.95053383C>T , CM000663.1:g.95053383C>T GRCh37
NC_000001.9:g.94825971C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_001738161.1:n.461+24214C>T
Search 100 bp 5'
Search 100 bp 3'