Canonical Allele Identifier: CA13632868
Gene:
COSMIC:
COSN17967228 (not active)
gnomAD v2:
12:112194976 T / C
gnomAD v3:
12:111757172 T / C
gnomAD v4:
chr12-111757172-T-C
Joint Max Group AF 0.89022321 (EAS)
Genomes Max Group AF 0.87877042 (EAS)
Exomes Max Group AF 0.88865153 (EAS)
dbSNP:
737280
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.111757172T>C , CM000674.2:g.111757172T>C GRCh38
NC_000012.11:g.112194976T>C , CM000674.1:g.112194976T>C GRCh37
NC_000012.10:g.110679359T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000546840.3:c.104+1427T>C
ENST00000546840.2:c.99+1427T>C ENSP00000450353.3:n.99+1427T>C
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