Canonical Allele Identifier: CA614218581

Gene:

Linked Data

• dbSNP Id: rs1471936504
• gnomAD v2: 14-52884382-T-C
• gnomAD v3: 14-52417664-T-C
• gnomAD v4: 14-52417664-T-C
• MyVariant Identifiers: chr14:g.52884382T>C (hg19) ; chr14:g.52417664T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.52417664T>C , CM000676.2:g.52417664T>C	GRCh38
NC_000014.8:g.52884382T>C , CM000676.1:g.52884382T>C	GRCh37
NC_000014.7:g.51954132T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_943866.1:n.3039A>G