Canonical Allele Identifier: CA298296833

Gene:

Linked Data

• dbSNP Id: rs1033068601
• gnomAD v2: 18-29336388-T-C
• gnomAD v3: 18-31756425-T-C
• gnomAD v4: 18-31756425-T-C
• MyVariant Identifiers: chr18:g.29336388T>C (hg19) ; chr18:g.31756425T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31756425T>C , CM000680.2:g.31756425T>C	GRCh38
NC_000018.9:g.29336388T>C , CM000680.1:g.29336388T>C	GRCh37
NC_000018.8:g.27590386T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_935338.1:n.66-5714T>C