Canonical Allele Identifier: CA982865674
Gene:

Linked Data

dbSNP Id: rs1597650294
gnomAD v3: 17-30237216-T-G
gnomAD v4: 17-30237216-T-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.30237216T>G , CM000679.2:g.30237216T>G GRCh38
NC_000017.10:g.28564234T>G , CM000679.1:g.28564234T>G GRCh37
NC_000017.9:g.25588360T>G NCBI36
NG_011747.2:g.3721A>C

Transcript Alleles

HGVS Amino-acid change
XR_934654.1:n.165+146T>G
XR_001752824.1:n.280+146T>G
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