Canonical Allele Identifier: CA1041166041
Gene:

Linked Data

gnomAD v3: 2-200033218-T-C
gnomAD v4: 2-200033218-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.200033218T>C , CM000664.2:g.200033218T>C GRCh38
NC_000002.11:g.200897941T>C , CM000664.1:g.200897941T>C GRCh37
NC_000002.10:g.200606186T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_923778.1:n.178-22322A>G
Search 100 bp 5'
Search 100 bp 3'