Canonical Allele Identifier: CA994936023
Gene:

Linked Data

dbSNP Id: rs2011164884
gnomAD v3: 19-28544678-C-G
gnomAD v4: 19-28544678-C-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.28544678C>G , CM000681.2:g.28544678C>G GRCh38
NC_000019.9:g.29035585C>G , CM000681.1:g.29035585C>G GRCh37
NC_000019.8:g.33727425C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_110759.1:n.657-77898G>C
XR_243979.1:n.110-51655G>C
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