Canonical Allele Identifier: CA950002274
Gene:

Linked Data

dbSNP Id: rs1289220636
gnomAD v3: 12-84952049-T-C
gnomAD v4: 12-84952049-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.84952049T>C , CM000674.2:g.84952049T>C GRCh38
NC_000012.11:g.85345828T>C , CM000674.1:g.85345828T>C GRCh37
NC_000012.10:g.83869959T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_945152.1:n.316+30735T>C
XR_945153.1:n.301+13585T>C
XR_945154.1:n.175-36893T>C
XR_945155.1:n.330+30735T>C
XR_945152.2:n.316+30735T>C
XR_945154.2:n.175-36893T>C
XR_945155.2:n.888+30735T>C
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