Canonical Allele Identifier: CA1138946780
Gene:

Linked Data

gnomAD v3: Y-8734249-A-G
gnomAD v4: Y-8734249-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.8734249A>G , CM000686.2:g.8734249A>G GRCh38
NC_000024.9:g.8602290A>G , CM000686.1:g.8602290A>G GRCh37
NC_000024.8:g.8662290A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000623558.1:c.197-5581A>G ENSP00000485446.1:n.197-5581A>G
ENST00000624237.1:c.64-7806A>G ENSP00000485137.1:n.64-7806A>G
ENST00000624593.1:c.-57+14467T>C ENSP00000485106.1:n.-57+14467T>C
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