Canonical Allele Identifier: CA127628874
Gene:

Linked Data

dbSNP Id: rs868828129
gnomAD v2: 5-128722803-G-A
gnomAD v3: 5-129387110-G-A
gnomAD v4: 5-129387110-G-A
MyVariant Identifiers: chr5:g.128722803G>A (hg19) chr5:g.129387110G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.129387110G>A , CM000667.2:g.129387110G>A GRCh38
NC_000005.9:g.128722803G>A , CM000667.1:g.128722803G>A GRCh37
NC_000005.8:g.128750702G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_427770.2:n.163-1338G>A
XR_948774.1:n.235-5541G>A
XR_001742463.1:n.4089-1338G>A
XR_001742464.1:n.2019-5541G>A
XR_001742465.1:n.401-1338G>A
XR_427770.3:n.337-1338G>A
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