Canonical Allele Identifier: CA1112576911
Gene:

Linked Data

dbSNP Id: rs1802343110
gnomAD v3: 8-33808401-A-G
gnomAD v4: 8-33808401-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.33808401A>G , CM000670.2:g.33808401A>G GRCh38
NC_000008.10:g.33665919A>G , CM000670.1:g.33665919A>G GRCh37
NC_000008.9:g.33785461A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_949659.1:n.240+11965A>G
XR_002956701.1:n.240+11965A>G
Search 100 bp 5'
Search 100 bp 3'