Canonical Allele Identifier: CA13907404
Gene:
COSMIC:
COSN6630070 (not active)
MyVariant.info:
GRCh38 chr13:g.62862667A>G
GRCh37 chr13:g.63436800A>G
gnomAD v2:
13:63436800 A / G
gnomAD v3:
13:62862667 A / G
gnomAD v4:
chr13-62862667-A-G
Joint Max Group AF 0.82332247 (EAS)
Genomes Max Group AF 0.82332247 (EAS)
dbSNP:
2204037
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.62862667A>G , CM000675.2:g.62862667A>G GRCh38
NC_000013.10:g.63436800A>G , CM000675.1:g.63436800A>G GRCh37
NC_000013.9:g.62334801A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_942013.1:n.292-23414T>C
Search 100 bp 5'
Search 100 bp 3'