COSMIC:
COSN15629839 (not active)
COSN15634434 (not active)
COSN15635252 (not active)
COSN15637797 (not active)
COSN15639530 (not active)
COSN15643611 (not active)
COSN15645258 (not active)
COSN15646121 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.4762885 (EAS)
Genomes Max Group AF
0.47668009 (EAS)
Exomes Max Group AF
0.47036865 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.15174922C>T , CM000665.2:g.15174922C>T | GRCh38 |
| NC_000003.11:g.15216429C>T , CM000665.1:g.15216429C>T | GRCh37 |
| NC_000003.10:g.15191433C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000446690.2:n.1282G>A | ||
| ENST00000487147.5:n.1106G>A | ||
| ENST00000491915.1:n.182G>A | ||
| NR_027927.1:n.1282G>A |