Canonical Allele Identifier: CA628433016

Gene:

Linked Data

• dbSNP Id: rs1402874462
• gnomAD v2: 18-10382828-T-C
• gnomAD v3: 18-10382831-T-C
• gnomAD v4: 18-10382831-T-C
• MyVariant Identifiers: chr18:g.10382828T>C (hg19) ; chr18:g.10382831T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.10382831T>C , CM000680.2:g.10382831T>C	GRCh38
NC_000018.9:g.10382828T>C , CM000680.1:g.10382828T>C	GRCh37
NC_000018.8:g.10372828T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_935143.1:n.919+1478T>C