Canonical Allele Identifier: CA727900942
Gene:

Linked Data

dbSNP Id: rs1391746849
gnomAD v3: 17-30237243-G-A
gnomAD v4: 17-30237243-G-A
MyVariant Identifiers: chr17:g.28564261G>A (hg19) chr17:g.30237243G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.30237243G>A , CM000679.2:g.30237243G>A GRCh38
NC_000017.10:g.28564261G>A , CM000679.1:g.28564261G>A GRCh37
NC_000017.9:g.25588387G>A NCBI36
NG_011747.2:g.3694C>T

Transcript Alleles

HGVS Amino-acid change
XR_934654.1:n.165+173G>A
XR_001752824.1:n.280+173G>A
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