Canonical Allele Identifier: CA1715429968
Gene:

Linked Data

dbSNP Id: rs1788209953
gnomAD v3: 7-69147091-T-G
gnomAD v4: 7-69147091-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.69147091T>G , CM000669.2:g.69147091T>G GRCh38
NC_000007.13:g.68612078T>G , CM000669.1:g.68612078T>G GRCh37
NC_000007.12:g.68250014T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_927647.1:n.88-965A>C
Search 100 bp 5'
Search 100 bp 3'