Canonical Allele Identifier: CA298296866

Gene:

Linked Data

• dbSNP Id: rs1012995333
• gnomAD v3: 18-31756749-T-C
• gnomAD v4: 18-31756749-T-C
• MyVariant Identifiers: chr18:g.29336712T>C (hg19) ; chr18:g.31756749T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31756749T>C , CM000680.2:g.31756749T>C	GRCh38
NC_000018.9:g.29336712T>C , CM000680.1:g.29336712T>C	GRCh37
NC_000018.8:g.27590710T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_935338.1:n.66-5390T>C