Canonical Allele Identifier: CA914066527
Gene:

Linked Data

dbSNP Id: rs1567323821
gnomAD v2: 16-9343380-G-A
gnomAD v3: 16-9249523-G-A
gnomAD v4: 16-9249523-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.9249523G>A , CM000678.2:g.9249523G>A GRCh38
NC_000016.9:g.9343380G>A , CM000678.1:g.9343380G>A GRCh37
NC_000016.8:g.9250881G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_933054.1:n.70+64790G>A
Search 100 bp 5'
Search 100 bp 3'