Canonical Allele Identifier: CA265581618

Gene:

Linked Data

• dbSNP Id: rs533335715
• gnomAD v2: 14-92781020-C-G
• gnomAD v3: 14-92314676-C-G
• gnomAD v4: 14-92314676-C-G
• MyVariant Identifiers: chr14:g.92781020C>G (hg19) ; chr14:g.92314676C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.92314676C>G , CM000676.2:g.92314676C>G	GRCh38
NC_000014.8:g.92781020C>G , CM000676.1:g.92781020C>G	GRCh37
NC_000014.7:g.91850773C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_944153.1:n.132-570C>G