Canonical Allele Identifier: CA977151112
Gene:

Linked Data

dbSNP Id: rs1961470486
gnomAD v3: 16-49108823-A-G
gnomAD v4: 16-49108823-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.49108823A>G , CM000678.2:g.49108823A>G GRCh38
NC_000016.9:g.49142734A>G , CM000678.1:g.49142734A>G GRCh37
NC_000016.8:g.47700235A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_933517.1:n.810+1121T>C
XR_001752138.2:n.591+5153T>C
XR_933517.2:n.810+1121T>C
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