Canonical Allele Identifier: CA1111626501
Gene:

Linked Data

dbSNP Id: rs1799796920
gnomAD v3: 8-20735007-T-C
gnomAD v4: 8-20735007-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.20735007T>C , CM000670.2:g.20735007T>C GRCh38
NC_000008.10:g.20592518T>C , CM000670.1:g.20592518T>C GRCh37
NC_000008.9:g.20636798T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_949569.3:n.72-55439T>C
Search 100 bp 5'
Search 100 bp 3'