Canonical Allele Identifier: CA12282085
Gene:
COSMIC:
COSN17572399 (not active)
MyVariant.info:
GRCh38 chr6:g.151627038A>T
GRCh37 chr6:g.151948173A>T
gnomAD v2:
6:151948173 A / T
gnomAD v3:
6:151627038 A / T
gnomAD v4:
chr6-151627038-A-T
Joint Max Group AF 0.47575228 (AFR)
Genomes Max Group AF 0.47575228 (AFR)
dbSNP:
7740686
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.151627038A>T , CM000668.2:g.151627038A>T GRCh38
NC_000006.11:g.151948173A>T , CM000668.1:g.151948173A>T GRCh37
NC_000006.10:g.151989866A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_943113.1:n.464A>T
XR_943115.1:n.464A>T
Search 100 bp 5'
Search 100 bp 3'