Canonical Allele Identifier: CA614218569

Gene:

Linked Data

• dbSNP Id: rs1210474480
• gnomAD v2: 14-52884257-C-G
• gnomAD v3: 14-52417539-C-G
• gnomAD v4: 14-52417539-C-G
• MyVariant Identifiers: chr14:g.52884257C>G (hg19) ; chr14:g.52417539C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.52417539C>G , CM000676.2:g.52417539C>G	GRCh38
NC_000014.8:g.52884257C>G , CM000676.1:g.52884257C>G	GRCh37
NC_000014.7:g.51954007C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_943866.1:n.3164G>C