Canonical Allele Identifier: CA1138946772
Gene:

Linked Data

dbSNP Id: rs2015450994
gnomAD v3: Y-8734235-C-T
gnomAD v4: Y-8734235-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.8734235C>T , CM000686.2:g.8734235C>T GRCh38
NC_000024.9:g.8602276C>T , CM000686.1:g.8602276C>T GRCh37
NC_000024.8:g.8662276C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000623558.1:c.197-5595C>T ENSP00000485446.1:n.197-5595C>T
ENST00000624237.1:c.64-7820C>T ENSP00000485137.1:n.64-7820C>T
ENST00000624593.1:c.-57+14481G>A ENSP00000485106.1:n.-57+14481G>A
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