Canonical Allele Identifier: CA185200396
Gene:

Linked Data

dbSNP Id: rs900361042
gnomAD v3: 8-122395817-A-C
gnomAD v4: 8-122395817-A-C
MyVariant Identifiers: chr8:g.122395817A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.122395817A>C , CM000670.2:g.122395817A>C GRCh38
NC_000008.10:g.123408056A>C , CM000670.1:g.123408056A>C GRCh37
NC_000008.9:g.123477237A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_928599.1:n.152+3355T>G
XR_928599.3:n.152+3355T>G
Search 100 bp 5'
Search 100 bp 3'