Canonical Allele Identifier: CA1129422964
Gene:

Linked Data

dbSNP Id: rs1829777914
gnomAD v3: 9-129576768-C-A
gnomAD v4: 9-129576768-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129576768C>A , CM000671.2:g.129576768C>A GRCh38
NC_000009.11:g.132339047C>A , CM000671.1:g.132339047C>A GRCh37
NC_000009.10:g.131378868C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_930390.1:n.182+1170C>A
Search 100 bp 5'
Search 100 bp 3'