Canonical Allele Identifier: CA1066140538
Gene:

Linked Data

dbSNP Id: rs1738892976
gnomAD v3: 4-102499945-C-T
gnomAD v4: 4-102499945-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.102499945C>T , CM000666.2:g.102499945C>T GRCh38
NC_000004.11:g.103421102C>T , CM000666.1:g.103421102C>T GRCh37
NC_000004.10:g.103640134C>T NCBI36
NG_050628.1:g.3617C>T

Transcript Alleles

HGVS Amino-acid Change
XM_011532467.1:c.643+1304G>A XP_011530769.1:n.643+1304G>A
NR_136202.1:n.48+2494G>A
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