Canonical Allele Identifier: CA1083526095
Gene:

Linked Data

dbSNP Id: rs1757454635
gnomAD v3: 5-159581066-T-C
gnomAD v4: 5-159581066-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.159581066T>C , CM000667.2:g.159581066T>C GRCh38
NC_000005.9:g.159008073T>C , CM000667.1:g.159008073T>C GRCh37
NC_000005.8:g.158940651T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_941139.1:n.2075+631T>C
XR_941140.1:n.2075+631T>C
XR_941141.1:n.570+631T>C
XR_941139.2:n.2229+631T>C
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