Canonical Allele Identifier: CA14517158
Gene:

Linked Data

dbSNP Id: rs2187375
gnomAD v2: 18-47172283-A-G
gnomAD v3: 18-49645913-A-G
gnomAD v4: 18-49645913-A-G
MyVariant Identifiers: chr18:g.47172283A>G (hg19) chr18:g.49645913A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.49645913A>G , CM000680.2:g.49645913A>G GRCh38
NC_000018.9:g.47172283A>G , CM000680.1:g.47172283A>G GRCh37
NC_000018.8:g.45426281A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_935461.1:n.162-16121A>G
XR_001753446.1:n.898-16121A>G
Search 100 bp 5'
Search 100 bp 3'