Canonical Allele Identifier: CA1041166126
Gene:

Linked Data

gnomAD v3: 2-200033342-A-C
gnomAD v4: 2-200033342-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.200033342A>C , CM000664.2:g.200033342A>C GRCh38
NC_000002.11:g.200898065A>C , CM000664.1:g.200898065A>C GRCh37
NC_000002.10:g.200606310A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_923778.1:n.178-22446T>G
Search 100 bp 5'
Search 100 bp 3'