Canonical Allele Identifier: CA134548296
Gene:

Linked Data

dbSNP Id: rs528961018
gnomAD v2: 6-8170044-G-A
gnomAD v3: 6-8169811-G-A
gnomAD v4: 6-8169811-G-A
MyVariant Identifiers: chr6:g.8170044G>A (hg19) chr6:g.8169811G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.8169811G>A , CM000668.2:g.8169811G>A GRCh38
NC_000006.11:g.8170044G>A , CM000668.1:g.8170044G>A GRCh37
NC_000006.10:g.8115043G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_926440.1:n.82+11551G>A
XR_926441.1:n.189+1891G>A
XR_926442.1:n.82+11551G>A
XR_926443.1:n.82+11551G>A
XR_001743950.1:n.179+1891G>A
XR_926440.2:n.74+11551G>A
XR_926441.2:n.179+1891G>A
XR_926443.2:n.83+11551G>A
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