Canonical Allele Identifier: CA1012052216

Gene:

Linked Data

• dbSNP Id: rs1658288192
• gnomAD v3: 1-213682327-A-T
• gnomAD v4: 1-213682327-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.213682327A>T , CM000663.2:g.213682327A>T	GRCh38
NC_000001.10:g.213855670A>T , CM000663.1:g.213855670A>T	GRCh37
NC_000001.9:g.211922293A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001738463.1:n.601-49090A>T
XR_001738464.1:n.426-49090A>T