ClinGen Allele Registry
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Canonical Allele Identifier:
CA833710483
Gene:
Linked Data
dbSNP Id:
rs1283008049
gnomAD v3:
7-13514309-C-G
gnomAD v4:
7-13514309-C-G
MyVariant Identifiers:
chr7:g.13553934C>G (hg19)
chr7:g.13514309C>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.13514309C>G , CM000669.2:g.13514309C>G
GRCh38
NC_000007.13:g.13553934C>G , CM000669.1:g.13553934C>G
GRCh37
NC_000007.12:g.13520459C>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001745097.1:n.148-188007C>G
Search 100 bp 5'
Search 100 bp 3'