Canonical Allele Identifier: CA185200413
Gene:

Linked Data

dbSNP Id: rs565041718
gnomAD v2: 8-123408175-A-G
gnomAD v3: 8-122395936-A-G
gnomAD v4: 8-122395936-A-G
MyVariant Identifiers: chr8:g.123408175A>G (hg19) chr8:g.122395936A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.122395936A>G , CM000670.2:g.122395936A>G GRCh38
NC_000008.10:g.123408175A>G , CM000670.1:g.123408175A>G GRCh37
NC_000008.9:g.123477356A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_928599.1:n.152+3236T>C
XR_928599.3:n.152+3236T>C
Search 100 bp 5'
Search 100 bp 3'