Canonical Allele Identifier: CA924308732
Gene:

Linked Data

dbSNP Id: rs1831861145
gnomAD v3: 10-3376006-G-A
gnomAD v4: 10-3376006-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.3376006G>A , CM000672.2:g.3376006G>A GRCh38
NC_000010.10:g.3418198G>A , CM000672.1:g.3418198G>A GRCh37
NC_000010.9:g.3408198G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
NR_131187.1:n.162+57150G>A
Search 100 bp 5'
Search 100 bp 3'