Canonical Allele Identifier: CA950572554
Gene:

Linked Data

dbSNP Id: rs1873065294
gnomAD v3: 12-93293060-T-G
gnomAD v4: 12-93293060-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.93293060T>G , CM000674.2:g.93293060T>G GRCh38
NC_000012.11:g.93686836T>G , CM000674.1:g.93686836T>G GRCh37
NC_000012.10:g.92210967T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_040096.1:n.329+34967A>C
Search 100 bp 5'
Search 100 bp 3'