Canonical Allele Identifier: CA1116344304
Gene:

Linked Data

dbSNP Id: rs1212834144
gnomAD v3: 8-88535710-G-A
gnomAD v4: 8-88535710-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.88535710G>A , CM000670.2:g.88535710G>A GRCh38
NC_000008.10:g.89547939G>A , CM000670.1:g.89547939G>A GRCh37
NC_000008.9:g.89617055G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_001745651.2:n.1673+10807C>T
XR_001745653.2:n.286-6970G>A
XR_928383.3:n.1475+10807C>T
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