COSMIC:
COSM3998145 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.32113734 (SAS)
Genomes Max Group AF
0.31754573 (SAS)
Exomes Max Group AF
0.32067237 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94842865C>T , CM000672.2:g.94842865C>T | GRCh38 |
| NC_000010.10:g.96602622C>T , CM000672.1:g.96602622C>T | GRCh37 |
| NC_000010.9:g.96592612C>T | NCBI36 |
| NG_008384.2:g.85160C>T | |
| NG_008384.3:g.85185C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.990C>T MANE Select | ENSP00000360372.3:p.Val330= | |
| ENST00000645461.1:n.1901C>T | ||
| ENST00000371321.7:c.990C>T | ENSP00000360372.3:p.Val330= | |
| ENST00000464755.1:c.1753C>T | ENSP00000483243.1:n.1753C>T | |
| NM_000769.2:c.990C>T | NP_000760.1:p.Val330= | |
| NM_000769.4:c.990C>T MANE Select | NP_000760.1:p.Val330= |