Canonical Allele Identifier: CA12221163
Gene:
MyVariant.info:
GRCh38 chr6:g.457748C>A
GRCh37 chr6:g.457748C>A
gnomAD v2:
6:457748 C / A
gnomAD v3:
6:457748 C / A
gnomAD v4:
chr6-457748-C-A
Joint Max Group AF 0.48363309 (NFE)
Genomes Max Group AF 0.48363309 (NFE)
dbSNP:
4959270
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.457748C>A , CM000668.2:g.457748C>A GRCh38
NC_000006.11:g.457748C>A , CM000668.1:g.457748C>A GRCh37
NC_000006.10:g.402748C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_926364.1:n.2714+4023C>A
XR_926365.1:n.2548+4023C>A
XR_001743914.1:n.481+6089C>A
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