Canonical Allele Identifier: CA134548285
Gene:

Linked Data

dbSNP Id: rs921605249
gnomAD v3: 6-8169717-C-T
gnomAD v4: 6-8169717-C-T
MyVariant Identifiers: chr6:g.8169950C>T (hg19) chr6:g.8169717C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.8169717C>T , CM000668.2:g.8169717C>T GRCh38
NC_000006.11:g.8169950C>T , CM000668.1:g.8169950C>T GRCh37
NC_000006.10:g.8114949C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_926440.1:n.82+11457C>T
XR_926441.1:n.189+1797C>T
XR_926442.1:n.82+11457C>T
XR_926443.1:n.82+11457C>T
XR_001743950.1:n.179+1797C>T
XR_926440.2:n.74+11457C>T
XR_926441.2:n.179+1797C>T
XR_926443.2:n.83+11457C>T
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