Canonical Allele Identifier: CA10829146
Gene:
COSMIC:
COSN163509 (not active)
COSN19630207 (not active)
MyVariant.info:
GRCh38 chr1:g.247184887C>T
GRCh37 chr1:g.247348189C>T
gnomAD v2:
1:247348189 C / T
gnomAD v3:
1:247184887 C / T
gnomAD v4:
chr1-247184887-C-T
Joint Max Group AF 0.33389251 (SAS)
Genomes Max Group AF 0.316399 (SAS)
Exomes Max Group AF 0.33434104 (SAS)
dbSNP:
3738443
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.247184887C>T , CM000663.2:g.247184887C>T GRCh38
NC_000001.10:g.247348189C>T , CM000663.1:g.247348189C>T GRCh37
NC_000001.9:g.245414812C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000400933.2:n.596G>A
Search 100 bp 5'
Search 100 bp 3'