Canonical Allele Identifier: CA1117690916
Gene:

Linked Data

dbSNP Id: rs1816863245
gnomAD v3: 8-107777512-A-G
gnomAD v4: 8-107777512-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.107777512A>G , CM000670.2:g.107777512A>G GRCh38
NC_000008.10:g.108789740A>G , CM000670.1:g.108789740A>G GRCh37
NC_000008.9:g.108858916A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_928527.1:n.185+964T>C
XR_928527.2:n.219+964T>C
Search 100 bp 5'
Search 100 bp 3'