Canonical Allele Identifier: CA1689284814
Gene:

Linked Data

dbSNP Id: rs1780382712
gnomAD v3: 7-13514304-C-G
gnomAD v4: 7-13514304-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.13514304C>G , CM000669.2:g.13514304C>G GRCh38
NC_000007.13:g.13553929C>G , CM000669.1:g.13553929C>G GRCh37
NC_000007.12:g.13520454C>G NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_001745097.1:n.148-188012C>G
Search 100 bp 5'
Search 100 bp 3'