Canonical Allele Identifier: CA974496550
Gene:

Linked Data

dbSNP Id: rs1898216821
gnomAD v3: 16-9249655-G-C
gnomAD v4: 16-9249655-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.9249655G>C , CM000678.2:g.9249655G>C GRCh38
NC_000016.9:g.9343512G>C , CM000678.1:g.9343512G>C GRCh37
NC_000016.8:g.9251013G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_933054.1:n.70+64922G>C
Search 100 bp 5'
Search 100 bp 3'