Canonical Allele Identifier: CA296568450

Gene:

Linked Data

• dbSNP Id: rs969611031
• gnomAD v2: 18-10321256-C-T
• MyVariant Identifiers: chr18:g.10321256C>T (hg19) ; chr18:g.10321259C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.10321259C>T , CM000680.2:g.10321259C>T	GRCh38
NC_000018.9:g.10321256C>T , CM000680.1:g.10321256C>T	GRCh37
NC_000018.8:g.10311256C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_935138.1:n.665+889G>A
XR_001753344.1:n.650+889G>A
XR_001753345.1:n.862G>A
XR_001753346.1:n.549+889G>A