Canonical Allele Identifier: CA300391543
Gene:

Linked Data

dbSNP Id: rs547221687
gnomAD v2: 18-47172210-C-T
gnomAD v3: 18-49645840-C-T
gnomAD v4: 18-49645840-C-T
MyVariant Identifiers: chr18:g.47172210C>T (hg19) chr18:g.49645840C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.49645840C>T , CM000680.2:g.49645840C>T GRCh38
NC_000018.9:g.47172210C>T , CM000680.1:g.47172210C>T GRCh37
NC_000018.8:g.45426208C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_935461.1:n.162-16194C>T
XR_001753446.1:n.898-16194C>T
Search 100 bp 5'
Search 100 bp 3'