Canonical Allele Identifier: CA1139019629
Gene:

Linked Data

gnomAD v3: Y-8605975-A-G
gnomAD v4: Y-8605975-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.8605975A>G , CM000686.2:g.8605975A>G GRCh38
NC_000024.9:g.8474016A>G , CM000686.1:g.8474016A>G GRCh37
NC_000024.8:g.8534016A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000624507.1:c.53-944T>C ENSP00000485522.1:n.53-944T>C
ENST00000624593.1:c.92+16877T>C ENSP00000485106.1:n.92+16877T>C
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