Canonical Allele Identifier: CA185200388
Gene:

Linked Data

dbSNP Id: rs895777835
gnomAD v2: 8-123408004-G-A
gnomAD v3: 8-122395765-G-A
gnomAD v4: 8-122395765-G-A
MyVariant Identifiers: chr8:g.123408004G>A (hg19) chr8:g.122395765G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.122395765G>A , CM000670.2:g.122395765G>A GRCh38
NC_000008.10:g.123408004G>A , CM000670.1:g.123408004G>A GRCh37
NC_000008.9:g.123477185G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_928599.1:n.152+3407C>T
XR_928599.3:n.152+3407C>T
Search 100 bp 5'
Search 100 bp 3'