ClinGen Allele Registry
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Canonical Allele Identifier:
CA806401087
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr5:g.159337470T>G
GRCh37
chr5:g.158764478T>G
Linked Data - Sequence & Population
gnomAD v3:
5:159337470 T / G
gnomAD v4:
chr5-159337470-T-G
Linked Data - NCBI & NCI
dbSNP:
4921482
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.159337470T>G , CM000667.2:g.159337470T>G
GRCh38
NC_000005.9:g.158764478T>G , CM000667.1:g.158764478T>G
GRCh37
NC_000005.8:g.158697056T>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_037889.1:n.745+4467T>G
Search 100 bp 5'
Search 100 bp 3'