Canonical Allele Identifier: CA727900691
Gene:

Linked Data

dbSNP Id: rs1248616859
gnomAD v3: 17-30237124-G-A
gnomAD v4: 17-30237124-G-A
MyVariant Identifiers: chr17:g.28564142G>A (hg19) chr17:g.30237124G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.30237124G>A , CM000679.2:g.30237124G>A GRCh38
NC_000017.10:g.28564142G>A , CM000679.1:g.28564142G>A GRCh37
NC_000017.9:g.25588268G>A NCBI36
NG_011747.2:g.3813C>T

Transcript Alleles

HGVS Amino-acid change
XR_934654.1:n.165+54G>A
XR_001752824.1:n.280+54G>A
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