Canonical Allele Identifier: CA977151134
Gene:

Linked Data

dbSNP Id: rs1961470678
gnomAD v3: 16-49108857-T-C
gnomAD v4: 16-49108857-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.49108857T>C , CM000678.2:g.49108857T>C GRCh38
NC_000016.9:g.49142768T>C , CM000678.1:g.49142768T>C GRCh37
NC_000016.8:g.47700269T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_933517.1:n.810+1087A>G
XR_001752138.2:n.591+5119A>G
XR_933517.2:n.810+1087A>G
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