Canonical Allele Identifier: CA1012052207

Gene:

Linked Data

• dbSNP Id: rs1658287809
• gnomAD v3: 1-213682293-A-G
• gnomAD v4: 1-213682293-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.213682293A>G , CM000663.2:g.213682293A>G	GRCh38
NC_000001.10:g.213855636A>G , CM000663.1:g.213855636A>G	GRCh37
NC_000001.9:g.211922259A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_001738463.1:n.601-49124A>G
XR_001738464.1:n.426-49124A>G