Canonical Allele Identifier: CA261186141

Gene:

Linked Data

• dbSNP Id: rs1034863809
• gnomAD v2: 14-49534466-A-G
• gnomAD v3: 14-49067748-A-G
• gnomAD v4: 14-49067748-A-G
• MyVariant Identifiers: chr14:g.49534466A>G (hg19) ; chr14:g.49067748A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.49067748A>G , CM000676.2:g.49067748A>G	GRCh38
NC_000014.8:g.49534466A>G , CM000676.1:g.49534466A>G	GRCh37
NC_000014.7:g.48604216A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_943837.1:n.222+2044T>C
XR_943837.2:n.345+2044T>C