Canonical Allele Identifier: CA299344135

Gene:

Linked Data

• dbSNP Id: rs149928512
• gnomAD v2: 18-39057735-C-T
• gnomAD v3: 18-41477771-C-T
• gnomAD v4: 18-41477771-C-T
• MyVariant Identifiers: chr18:g.39057735C>T (hg19) ; chr18:g.41477771C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.41477771C>T , CM000680.2:g.41477771C>T	GRCh38
NC_000018.9:g.39057735C>T , CM000680.1:g.39057735C>T	GRCh37
NC_000018.8:g.37311733C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_935409.1:n.86-26363C>T