Canonical Allele Identifier: CA180418708

Gene:

Linked Data

• dbSNP Id: rs1057162523
• gnomAD v2: 8-80103381-A-G
• gnomAD v3: 8-79191146-A-G
• gnomAD v4: 8-79191146-A-G
• MyVariant Identifiers: chr8:g.80103381A>G (hg19) ; chr8:g.79191146A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.79191146A>G , CM000670.2:g.79191146A>G	GRCh38
NC_000008.10:g.80103381A>G , CM000670.1:g.80103381A>G	GRCh37
NC_000008.9:g.80265936A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_001745720.1:n.105+775A>G