Canonical Allele Identifier: CA1010608024

Gene:

Linked Data

• dbSNP Id: rs1675452571
• gnomAD v3: 1-193121933-C-T
• gnomAD v4: 1-193121933-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.193121933C>T , CM000663.2:g.193121933C>T	GRCh38
NC_000001.10:g.193091063C>T , CM000663.1:g.193091063C>T	GRCh37
NC_000001.9:g.191357686C>T	NCBI36
NG_012691.1:g.4976C>T , LRG_507:g.4976C>T

Transcript Alleles

HGVS	Amino-acid Change
XR_001738350.1:n.1724G>A