Canonical Allele Identifier: CA727804477
Gene:

Linked Data

dbSNP Id: rs1322749809
gnomAD v3: 17-29376358-C-T
gnomAD v4: 17-29376358-C-T
MyVariant Identifiers: chr17:g.27703376C>T (hg19) chr17:g.29376358C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.29376358C>T , CM000679.2:g.29376358C>T GRCh38
NC_000017.10:g.27703376C>T , CM000679.1:g.27703376C>T GRCh37
NC_000017.9:g.24727502C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XM_011525588.1:c.1008-6053G>A XP_011523890.1:n.1008-6053G>A
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