Canonical Allele Identifier: CA289293167
Gene:

Linked Data

dbSNP Id: rs560747706
gnomAD v3: 17-30237044-C-T
gnomAD v4: 17-30237044-C-T
MyVariant Identifiers: chr17:g.28564062C>T (hg19) chr17:g.30237044C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.30237044C>T , CM000679.2:g.30237044C>T GRCh38
NC_000017.10:g.28564062C>T , CM000679.1:g.28564062C>T GRCh37
NC_000017.9:g.25588188C>T NCBI36
NG_011747.2:g.3893G>A

Transcript Alleles

HGVS Amino-acid Change
XR_934654.1:n.139C>T
XR_001752824.1:n.254C>T
Search 100 bp 5'
Search 100 bp 3'