COSMIC:
COSM4997882 (not active)
Revel Score:
ENST00000437932
0.023
ENST00000317968 (MANE Select)
0.023
ENST00000503974
0.023
ENST00000542407
0.023
ENST00000514743
0.023
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.60614233 (SAS)
Genomes Max Group AF
0.60163071 (SAS)
Exomes Max Group AF
0.60547929 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.94640308A>G , CM000666.2:g.94640308A>G | GRCh38 |
| NC_000004.11:g.95561459A>G , CM000666.1:g.95561459A>G | GRCh37 |
| NC_000004.10:g.95780482A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317968.9:c.1141A>G MANE Select | ENSP00000321746.4:p.Thr381Ala | |
| ENST00000317968.8:c.1141A>G | ENSP00000321746.4:p.Thr381Ala | |
| ENST00000380176.7:n.1034A>G | ||
| ENST00000437932.5:c.166A>G | ENSP00000398469.2:p.Thr56Ala | |
| ENST00000503974.5:c.832A>G | ENSP00000424297.1:p.Thr278Ala | |
| ENST00000506632.2:c.369A>G | ||
| ENST00000514743.5:c.1228A>G | ENSP00000424360.1:p.Thr410Ala | |
| ENST00000542407.5:c.814A>G | ENSP00000442187.2:p.Thr272Ala | |
| ENST00000615540.4:c.1228A>G | ENSP00000480359.1:p.Thr410Ala | |
| ENST00000627587.2:c.*869A>G | ENSP00000486938.1:n.*869A>G | |
| NM_001011513.3:c.814A>G | NP_001011513.3:p.Thr272Ala | |
| NM_001256425.1:c.166A>G | NP_001243354.1:p.Thr56Ala | |
| NM_001256426.1:c.1228A>G | NP_001243355.1:p.Thr410Ala | |
| NM_001256427.1:c.832A>G | NP_001243356.1:p.Thr278Ala | |
| NM_001256428.1:c.775A>G | NP_001243357.1:p.Thr259Ala | |
| NM_006457.4:c.1141A>G | NP_006448.4:p.Thr381Ala | |
| XM_005262693.3:c.1555A>G | XP_005262750.1:p.Thr519Ala | |
| XM_005262695.3:c.1537A>G | XP_005262752.1:p.Thr513Ala | |
| XM_005262696.3:c.1210A>G | XP_005262753.1:p.Thr404Ala | |
| XM_005262698.3:c.832A>G | XP_005262755.1:p.Thr278Ala | |
| XM_006714066.2:c.1570A>G | XP_006714129.1:p.Thr524Ala | |
| XM_006714067.2:c.1570A>G | XP_006714130.1:p.Thr524Ala | |
| XM_006714068.2:c.1243A>G | XP_006714131.1:p.Thr415Ala | |
| XM_006714069.2:c.1174A>G | XP_006714132.1:p.Thr392Ala | |
| XM_006714070.2:c.1168A>G | XP_006714133.1:p.Thr390Ala | |
| XM_011531543.1:c.1153A>G | XP_011529845.1:p.Thr385Ala | |
| XM_005262693.5:c.1555A>G | XP_005262750.1:p.Thr519Ala | |
| XM_005262695.5:c.1537A>G | XP_005262752.1:p.Thr513Ala | |
| XM_005262696.4:c.1210A>G | XP_005262753.1:p.Thr404Ala | |
| XM_005262698.4:c.832A>G | XP_005262755.1:p.Thr278Ala | |
| XM_006714066.4:c.1570A>G | XP_006714129.1:p.Thr524Ala | |
| XM_006714068.3:c.1243A>G | XP_006714131.1:p.Thr415Ala | |
| XM_006714069.4:c.1174A>G | XP_006714132.1:p.Thr392Ala | |
| XM_006714070.3:c.1168A>G | XP_006714133.1:p.Thr390Ala | |
| XM_011531543.3:c.1153A>G | XP_011529845.1:p.Thr385Ala | |
| XM_017007657.2:c.1159A>G | XP_016863146.1:p.Thr387Ala | |
| XM_017007658.1:c.847A>G | XP_016863147.1:p.Thr283Ala | |
| NM_001011513.4:c.814A>G | NP_001011513.4:p.Thr272Ala | |
| NM_001256427.2:c.832A>G | NP_001243356.2:p.Thr278Ala | |
| NM_001256428.2:c.775A>G | NP_001243357.2:p.Thr259Ala | |
| NM_006457.5:c.1141A>G MANE Select | NP_006448.5:p.Thr381Ala | |
| NM_001256425.2:c.166A>G | NP_001243354.2:p.Thr56Ala | |
| NM_001256426.2:c.1228A>G | NP_001243355.2:p.Thr410Ala |