Canonical Allele Identifier: CA983290100
Gene:

Linked Data

dbSNP Id: rs2088509377
gnomAD v3: 17-35880807-T-C
gnomAD v4: 17-35880807-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.35880807T>C , CM000679.2:g.35880807T>C GRCh38
NC_000017.9:g.31231924T>C NCBI36
NG_015990.1:g.4567A>G

Transcript Alleles

HGVS Amino-acid change
XR_934696.1:n.197-3575T>C
XR_934697.1:n.200-3575T>C
XR_001752852.1:n.426+733T>C
XR_934696.2:n.91-3575T>C
XR_934697.2:n.91-3575T>C
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