Canonical Allele Identifier: CA612440801
Gene:

Linked Data

dbSNP Id: rs917754124
gnomAD v2: 14-21261577-G-A
gnomAD v3: 14-20793418-G-A
gnomAD v4: 14-20793418-G-A
MyVariant Identifiers: chr14:g.21261577G>A (hg19) chr14:g.20793418G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.20793418G>A , CM000676.2:g.20793418G>A GRCh38
NC_000014.8:g.21261577G>A , CM000676.1:g.21261577G>A GRCh37
NC_000014.7:g.20331417G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_943584.1:n.585+632G>A
XR_943585.1:n.585+632G>A
XR_001750620.1:n.3271+632G>A
XR_001750621.1:n.3271+632G>A
XR_001750622.1:n.637+6486C>T
XR_001750623.1:n.637+6486C>T
XR_001750624.1:n.637+6486C>T
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