Canonical Allele Identifier: CA10701206
Gene:

Linked Data

dbSNP Id: rs72751528
gnomAD v2: 1-213855730-G-A
gnomAD v3: 1-213682387-G-A
gnomAD v4: 1-213682387-G-A
MyVariant Identifiers: chr1:g.213855730G>A (hg19) chr1:g.213682387G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.213682387G>A , CM000663.2:g.213682387G>A GRCh38
NC_000001.10:g.213855730G>A , CM000663.1:g.213855730G>A GRCh37
NC_000001.9:g.211922353G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001738463.1:n.601-49030G>A
XR_001738464.1:n.426-49030G>A
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