Canonical Allele Identifier: CA850516159
Gene:

Linked Data

dbSNP Id: rs1323120893
gnomAD v3: 8-2882992-G-C
gnomAD v4: 8-2882992-G-C
MyVariant Identifiers: chr8:g.2740514G>C (hg19) chr8:g.2882992G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.2882992G>C , CM000670.2:g.2882992G>C GRCh38
NC_000008.10:g.2740514G>C , CM000670.1:g.2740514G>C GRCh37
NC_000008.9:g.2727921G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_941367.1:n.212-42773G>C
NR_168441.1:n.1166+45228G>C
NR_168442.1:n.1331-33343G>C
NR_168443.1:n.1171+45228G>C
NR_168444.1:n.1166+45228G>C
NR_168445.1:n.1249+45145G>C
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