Canonical Allele Identifier: CA1030689066
Gene:

Linked Data

dbSNP Id: rs1668656960
gnomAD v3: 2-52722426-T-G
gnomAD v4: 2-52722426-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.52722426T>G , CM000664.2:g.52722426T>G GRCh38
NC_000002.11:g.52949564T>G , CM000664.1:g.52949564T>G GRCh37
NC_000002.10:g.52803068T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_002959384.1:n.831A>C
Search 100 bp 5'
Search 100 bp 3'