Canonical Allele Identifier: CA1118963438
Gene:

Linked Data

dbSNP Id: rs1815130255
gnomAD v3: 8-127012622-A-C
gnomAD v4: 8-127012622-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.127012622A>C , CM000670.2:g.127012622A>C GRCh38
NC_000008.10:g.128024867A>C , CM000670.1:g.128024867A>C GRCh37
NC_000008.9:g.128094049A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001746076.2:n.1364+6004A>C
Search 100 bp 5'
Search 100 bp 3'