COSMIC:
COSM3759388 (not active)
COSM3759389 (not active)
COSM3759390 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.39037641 (NFE)
Genomes Max Group AF
0.38595141 (NFE)
Exomes Max Group AF
0.39040925 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.149501018G>A , CM000685.2:g.149501018G>A | GRCh38 |
| NC_000023.10:g.148582549G>A , CM000685.1:g.148582549G>A | GRCh37 |
| NC_000023.9:g.148390454G>A | NCBI36 |
| NG_011900.3:g.9317C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340855.11:c.438C>T MANE Select | ENSP00000339801.6:p.Thr146= | |
| ENST00000651111.1:c.-196C>T | ENSP00000498395.1:n.-196C>T | |
| ENST00000340855.10:c.438C>T | ENSP00000339801.6:p.Thr146= | |
| ENST00000370441.8:c.438C>T | ENSP00000359470.4:p.Thr146= | |
| ENST00000422081.6:c.-196C>T | ENSP00000477056.1:n.-196C>T | |
| ENST00000441880.1:n.114-13920C>T | ||
| ENST00000464251.5:c.364C>T | ENSP00000428980.1:n.364C>T | |
| ENST00000466323.5:c.438C>T | ENSP00000418264.1:p.Thr146= | |
| ENST00000490775.5:n.97C>T | ||
| ENST00000523759.5:n.552C>T | ||
| NM_000202.6:c.438C>T | NP_000193.1:p.Thr146= | |
| NM_001166550.2:c.168C>T | NP_001160022.1:p.Thr56= | |
| NM_006123.4:c.438C>T | NP_006114.1:p.Thr146= | |
| NR_104128.1:n.655C>T | ||
| NM_000202.7:c.438C>T | NP_000193.1:p.Thr146= | |
| NM_001166550.3:c.168C>T | NP_001160022.1:p.Thr56= | |
| NM_000202.8:c.438C>T MANE Select | NP_000193.1:p.Thr146= | |
| NM_001166550.4:c.168C>T | NP_001160022.1:p.Thr56= | |
| NM_006123.5:c.438C>T | NP_006114.1:p.Thr146= | |
| NR_104128.2:n.607C>T |