Canonical Allele Identifier: CA1040809014

Gene:

Linked Data

• dbSNP Id: rs1688118608
• gnomAD v3: 2-195006922-A-G
• gnomAD v4: 2-195006922-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.195006922A>G , CM000664.2:g.195006922A>G	GRCh38
NC_000002.11:g.195871646A>G , CM000664.1:g.195871646A>G	GRCh37
NC_000002.10:g.195579891A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001739836.1:n.553+52513T>C