Canonical Allele Identifier: CA262352018

Gene:

Linked Data

• dbSNP Id: rs979211169
• gnomAD v2: 14-62968425-C-G
• gnomAD v3: 14-62501707-C-G
• gnomAD v4: 14-62501707-C-G
• MyVariant Identifiers: chr14:g.62968425C>G (hg19) ; chr14:g.62501707C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.62501707C>G , CM000676.2:g.62501707C>G	GRCh38
NC_000014.8:g.62968425C>G , CM000676.1:g.62968425C>G	GRCh37
NC_000014.7:g.62038178C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_943932.1:n.116-2334C>G
XR_943932.2:n.103-2334C>G