Canonical Allele Identifier: CA265876949

Gene:

Linked Data

• dbSNP Id: rs555847222
• gnomAD v2: 14-95078585-A-G
• gnomAD v3: 14-94612248-A-G
• gnomAD v4: 14-94612248-A-G
• MyVariant Identifiers: chr14:g.95078585A>G (hg19) ; chr14:g.94612248A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.94612248A>G , CM000676.2:g.94612248A>G	GRCh38
NC_000014.8:g.95078585A>G , CM000676.1:g.95078585A>G	GRCh37
NC_000014.7:g.94148338A>G	NCBI36
NG_012879.1:g.4872A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553947.1:c.805-49A>G