Canonical Allele Identifier: CA287548675

Gene:

Linked Data

• dbSNP Id: rs149460045
• gnomAD v2: 17-8041136-A-G
• gnomAD v3: 17-8137818-A-G
• gnomAD v4: 17-8137818-A-G
• MyVariant Identifiers: chr17:g.8041136A>G (hg19) ; chr17:g.8137818A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8137818A>G , CM000679.2:g.8137818A>G	GRCh38
NC_000017.10:g.8041136A>G , CM000679.1:g.8041136A>G	GRCh37
NC_000017.9:g.7981861A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_934202.1:n.183-1031A>G
XR_934203.1:n.70-1659A>G
XR_934202.2:n.414-1031A>G