Canonical Allele Identifier: CA171706346
Gene:

Linked Data

dbSNP Id: rs531647349
gnomAD v2: 8-5764482-A-G
gnomAD v3: 8-5906960-A-G
gnomAD v4: 8-5906960-A-G
MyVariant Identifiers: chr8:g.5764482A>G (hg19) chr8:g.5906960A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.5906960A>G , CM000670.2:g.5906960A>G GRCh38
NC_000008.10:g.5764482A>G , CM000670.1:g.5764482A>G GRCh37
NC_000008.9:g.5751890A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_941374.1:n.308-7229T>C
XR_941375.1:n.308-7229T>C
XR_941376.1:n.406-7229T>C
XR_941377.1:n.308-7229T>C
XR_941378.1:n.216-7229T>C
XR_001745765.1:n.308-7229T>C
XR_001745766.1:n.406-7229T>C
XR_001745767.1:n.216-7229T>C
XR_001745768.1:n.308-7229T>C
XR_941374.2:n.308-7229T>C
XR_941375.2:n.308-7229T>C
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