Canonical Allele Identifier: CA1481405716
Gene:

Linked Data

dbSNP Id: rs1738883025
gnomAD v3: 4-102499801-T-G
gnomAD v4: 4-102499801-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.102499801T>G , CM000666.2:g.102499801T>G GRCh38
NC_000004.11:g.103420958T>G , CM000666.1:g.103420958T>G GRCh37
NC_000004.10:g.103639990T>G NCBI36
NG_050628.1:g.3473T>G

Transcript Alleles

HGVS Amino-acid Change
XM_011532467.1:c.643+1448A>C XP_011530769.1:n.643+1448A>C
NR_136202.1:n.48+2638A>C
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