Canonical Allele Identifier: CA1138670287
Gene:

Linked Data

dbSNP Id: rs2051138900
gnomAD v3: Y-2818506-A-G
gnomAD v4: Y-2818506-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.2818506A>G , CM000686.2:g.2818506A>G GRCh38
NC_000024.9:g.2686547A>G , CM000686.1:g.2686547A>G GRCh37
NC_000024.8:g.2746547A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000679518.1:n.107-22980A>G
ENST00000681787.1:n.107-22522A>G
ENST00000681940.1:n.107-27140A>G
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