Canonical Allele Identifier: CA12400968
Gene:
COSMIC:
COSN16315970 (not active)
MyVariant.info:
GRCh38 chr6:g.33857581G>A
GRCh37 chr6:g.33825358G>A
gnomAD v2:
6:33825358 G / A
gnomAD v3:
6:33857581 G / A
gnomAD v4:
chr6-33857581-G-A
Joint Max Group AF 0.72747899 (NFE)
Genomes Max Group AF 0.72747899 (NFE)
dbSNP:
2104362
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33857581G>A , CM000668.2:g.33857581G>A GRCh38
NC_000006.11:g.33825358G>A , CM000668.1:g.33825358G>A GRCh37
NC_000006.10:g.33933336G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_926720.1:n.237+1143G>A
XR_926721.1:n.237+1143G>A
XR_926722.1:n.237+1143G>A
XR_926723.1:n.235+1143G>A
XR_926724.1:n.237+1143G>A
XR_926725.1:n.236+1143G>A
XR_926720.2:n.237+1143G>A
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