Canonical Allele Identifier: CA1098581739
Gene:

Linked Data

dbSNP Id: rs1783119229
gnomAD v3: 7-13400649-G-A
gnomAD v4: 7-13400649-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.13400649G>A , CM000669.2:g.13400649G>A GRCh38
NC_000007.13:g.13440274G>A , CM000669.1:g.13440274G>A GRCh37
NC_000007.12:g.13406799G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001745097.1:n.147+90326G>A
Search 100 bp 5'
Search 100 bp 3'