Canonical Allele Identifier: CA134548299
Gene:

Linked Data

dbSNP Id: rs568950637
gnomAD v2: 6-8170057-T-G
gnomAD v3: 6-8169824-T-G
gnomAD v4: 6-8169824-T-G
MyVariant Identifiers: chr6:g.8170057T>G (hg19) chr6:g.8169824T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.8169824T>G , CM000668.2:g.8169824T>G GRCh38
NC_000006.11:g.8170057T>G , CM000668.1:g.8170057T>G GRCh37
NC_000006.10:g.8115056T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_926440.1:n.82+11564T>G
XR_926441.1:n.189+1904T>G
XR_926442.1:n.82+11564T>G
XR_926443.1:n.82+11564T>G
XR_001743950.1:n.179+1904T>G
XR_926440.2:n.74+11564T>G
XR_926441.2:n.179+1904T>G
XR_926443.2:n.83+11564T>G
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