Canonical Allele Identifier: CA214744231

Gene:

Linked Data

• dbSNP Id: rs11199254
• gnomAD v2: 10-122043489-C-T
• gnomAD v3: 10-120283977-C-T
• gnomAD v4: 10-120283977-C-T
• MyVariant Identifiers: chr10:g.122043489C>T (hg19) ; chr10:g.120283977C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.120283977C>T , CM000672.2:g.120283977C>T	GRCh38
NC_000010.10:g.122043489C>T , CM000672.1:g.122043489C>T	GRCh37
NC_000010.9:g.122033479C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_946364.1:n.672-4413C>T
XR_946365.1:n.128-4413C>T
XR_001747605.1:n.625-4413C>T
XR_001747606.1:n.916-4413C>T