Canonical Allele Identifier: CA1012755408
Gene:

Linked Data

dbSNP Id: rs1339635168
gnomAD v3: 1-224068658-C-G
gnomAD v4: 1-224068658-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.224068658C>G , CM000663.2:g.224068658C>G GRCh38
NC_000001.10:g.224256360C>G , CM000663.1:g.224256360C>G GRCh37
NC_000001.9:g.222322983C>G NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_949173.1:n.385+1004C>G
XR_001737824.1:n.242+1004C>G
Search 100 bp 5'
Search 100 bp 3'