Canonical Allele Identifier: CA950572568

Gene:

Linked Data

• dbSNP Id: rs1873065554
• gnomAD v3: 12-93293069-C-T
• gnomAD v4: 12-93293069-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.93293069C>T , CM000674.2:g.93293069C>T	GRCh38
NC_000012.11:g.93686845C>T , CM000674.1:g.93686845C>T	GRCh37
NC_000012.10:g.92210976C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NR_040096.1:n.329+34958G>A