Canonical Allele Identifier: CA1066140214
Gene:

Linked Data

dbSNP Id: rs1738871686
gnomAD v3: 4-102499624-G-C
gnomAD v4: 4-102499624-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.102499624G>C , CM000666.2:g.102499624G>C GRCh38
NC_000004.11:g.103420781G>C , CM000666.1:g.103420781G>C GRCh37
NC_000004.10:g.103639813G>C NCBI36
NG_050628.1:g.3296G>C

Transcript Alleles

HGVS Amino-acid change
XM_011532467.1:c.643+1625C>G XP_011530769.1:n.643+1625C>G
NR_136202.1:n.48+2815C>G
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