Canonical Allele Identifier: CA1000457804
Gene:

Linked Data

dbSNP Id: rs1571458767
gnomAD v3: 1-34523569-C-G
gnomAD v4: 1-34523569-C-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.34523569C>G , CM000663.2:g.34523569C>G GRCh38
NC_000001.10:g.34989170C>G , CM000663.1:g.34989170C>G GRCh37
NC_000001.9:g.34761757C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_947171.1:n.1073+24010G>C
XR_001737964.1:n.991+24010G>C
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