Canonical Allele Identifier: CA15736170
Gene:
COSMIC:
COSN17936851 (not active)
MyVariant.info:
GRCh38 chr12:g.68247752T>A
GRCh37 chr12:g.68641532T>A
gnomAD v2:
12:68641532 T / A
gnomAD v3:
12:68247752 T / A
gnomAD v4:
chr12-68247752-T-A
Joint Max Group AF 0.51208493 (SAS)
Genomes Max Group AF 0.51208493 (SAS)
dbSNP:
1182844
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.68247752T>A , CM000674.2:g.68247752T>A GRCh38
NC_000012.11:g.68641532T>A , CM000674.1:g.68641532T>A GRCh37
NC_000012.10:g.66927799T>A NCBI36
NG_060763.1:g.10853A>T

Transcript Alleles

HGVS Amino-acid Change
XR_945055.1:n.265-16906T>A
XR_002957418.1:n.281-16906T>A
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Search 100 bp 3'