COSMIC:
COSN19659541 (not active)
COSN23021346 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.76435782 (EAS)
Genomes Max Group AF
0.74175385 (EAS)
Exomes Max Group AF
0.76767134 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.101041390C>T , CM000676.2:g.101041390C>T | GRCh38 |
| NC_000014.8:g.101507727C>T , CM000676.1:g.101507727C>T | GRCh37 |
| NC_000014.7:g.100577480C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_030582.1:n.28C>T |