Canonical Allele Identifier: CA2601650732
Gene:

Linked Data

dbSNP Id: rs2110027156
gnomAD v3: 4-89655960-T-C
gnomAD v4: 4-89655960-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.89655960T>C , CM000666.2:g.89655960T>C GRCh38
NC_000004.11:g.90577111T>C , CM000666.1:g.90577111T>C GRCh37
NC_000004.10:g.90796134T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_938986.1:n.434+28043T>C
XR_938987.1:n.688+28043T>C
XR_938988.1:n.554+28043T>C
XR_938990.1:n.299-35325T>C
XR_938991.1:n.434+28043T>C
XR_938994.1:n.779+28043T>C
XR_938995.1:n.613+28043T>C
XR_938986.2:n.459+28043T>C
XR_938987.2:n.748+28043T>C
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