Canonical Allele Identifier: CA13498512

Gene:

Linked Data

• dbSNP Id: rs10830228
• gnomAD v2: 11-88891114-A-G
• gnomAD v3: 11-89157946-A-G
• gnomAD v4: 11-89157946-A-G
• MyVariant Identifiers: chr11:g.88891114A>G (hg19) ; chr11:g.89157946A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.89157946A>G , CM000673.2:g.89157946A>G	GRCh38
NC_000011.9:g.88891114A>G , CM000673.1:g.88891114A>G	GRCh37
NC_000011.8:g.88530762A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_001748321.1:n.2718-44413T>C
XR_001748322.1:n.2733-44413T>C