Canonical Allele Identifier: CA2221132895
Gene:

Linked Data

dbSNP Id: rs1596728234
gnomAD v3: 16-49108842-A-G
gnomAD v4: 16-49108842-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.49108842A>G , CM000678.2:g.49108842A>G GRCh38
NC_000016.9:g.49142753A>G , CM000678.1:g.49142753A>G GRCh37
NC_000016.8:g.47700254A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_933517.1:n.810+1102T>C
XR_001752138.2:n.591+5134T>C
XR_933517.2:n.810+1102T>C
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