Canonical Allele Identifier: CA1066140219
Gene:

Linked Data

dbSNP Id: rs1738872753
gnomAD v3: 4-102499646-G-A
gnomAD v4: 4-102499646-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.102499646G>A , CM000666.2:g.102499646G>A GRCh38
NC_000004.11:g.103420803G>A , CM000666.1:g.103420803G>A GRCh37
NC_000004.10:g.103639835G>A NCBI36
NG_050628.1:g.3318G>A

Transcript Alleles

HGVS Amino-acid change
XM_011532467.1:c.643+1603C>T XP_011530769.1:n.643+1603C>T
NR_136202.1:n.48+2793C>T
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