Canonical Allele Identifier: CA1098581743
Gene:

Linked Data

dbSNP Id: rs1783119366
gnomAD v3: 7-13400677-T-C
gnomAD v4: 7-13400677-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.13400677T>C , CM000669.2:g.13400677T>C GRCh38
NC_000007.13:g.13440302T>C , CM000669.1:g.13440302T>C GRCh37
NC_000007.12:g.13406827T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001745097.1:n.147+90354T>C
Search 100 bp 5'
Search 100 bp 3'