Canonical Allele Identifier: CA171706351
Gene:

Linked Data

dbSNP Id: rs985990757
gnomAD v2: 8-5764518-G-T
gnomAD v3: 8-5906996-G-T
gnomAD v4: 8-5906996-G-T
MyVariant Identifiers: chr8:g.5764518G>T (hg19) chr8:g.5906996G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.5906996G>T , CM000670.2:g.5906996G>T GRCh38
NC_000008.10:g.5764518G>T , CM000670.1:g.5764518G>T GRCh37
NC_000008.9:g.5751926G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_941374.1:n.308-7265C>A
XR_941375.1:n.308-7265C>A
XR_941376.1:n.406-7265C>A
XR_941377.1:n.308-7265C>A
XR_941378.1:n.216-7265C>A
XR_001745765.1:n.308-7265C>A
XR_001745766.1:n.406-7265C>A
XR_001745767.1:n.216-7265C>A
XR_001745768.1:n.308-7265C>A
XR_941374.2:n.308-7265C>A
XR_941375.2:n.308-7265C>A
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