Canonical Allele Identifier: CA14450094
Gene:

Linked Data

dbSNP Id: rs117576373
gnomAD v2: 17-46820676-C-T
gnomAD v3: 17-48743314-C-T
gnomAD v4: 17-48743314-C-T
MyVariant Identifiers: chr17:g.46820676C>T (hg19) chr17:g.48743314C>T (hg38)
Allelic Epigenome: Alellic Epigenome (raw data)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.48743314C>T , CM000679.2:g.48743314C>T GRCh38
NC_000017.10:g.46820676C>T , CM000679.1:g.46820676C>T GRCh37
NC_000017.9:g.44175675C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_934823.1:n.1598C>T
Search 100 bp 5'
Search 100 bp 3'