Canonical Allele Identifier: CA1138937605
Gene:

Linked Data

dbSNP Id: rs914330288
gnomAD v3: Y-8707807-A-C
gnomAD v4: Y-8707807-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.8707807A>C , CM000686.2:g.8707807A>C GRCh38
NC_000024.9:g.8575848A>C , CM000686.1:g.8575848A>C GRCh37
NC_000024.8:g.8635848A>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000623558.1:c.139+8775A>C ENSP00000485446.1:n.139+8775A>C
ENST00000624593.1:c.-57+40909T>G ENSP00000485106.1:n.-57+40909T>G
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