COSMIC:
COSM4808752 (not active)
Revel Score:
ENST00000333234
0.090
ENST00000269194
0.090
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.31360081 (AFR)
Genomes Max Group AF
0.31064031 (AFR)
Exomes Max Group AF
0.3141587 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.35977503A>G , CM000680.2:g.35977503A>G | GRCh38 |
| NC_000018.9:g.33557466A>G , CM000680.1:g.33557466A>G | GRCh37 |
| NC_000018.8:g.31811464A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000592875.6:c.394A>G MANE Select | ENSP00000465517.1:p.Thr132Ala | |
| ENST00000269194.10:c.130A>G | ENSP00000269194.6:p.Thr44Ala | |
| ENST00000333234.5:c.130A>G | ENSP00000329492.5:p.Thr44Ala | |
| ENST00000587873.5:c.130A>G | ENSP00000466400.1:p.Thr44Ala | |
| ENST00000592875.5:c.394A>G | ENSP00000465517.1:p.Thr132Ala | |
| ENST00000610527.4:c.130A>G | ENSP00000480486.1:p.Thr44Ala | |
| ENST00000618334.1:c.301-1332A>G | ENSP00000483334.1:n.301-1332A>G | |
| NM_001201474.1:c.130A>G | NP_001188403.1:p.Thr44Ala | |
| NM_001201475.1:c.130A>G | NP_001188404.1:p.Thr44Ala | |
| NM_001201476.1:c.301-1332A>G | NP_001188405.1:n.301-1332A>G | |
| NM_031446.4:c.394A>G | NP_113634.3:p.Thr132Ala | |
| XM_005258364.3:c.412A>G | XP_005258421.1:p.Thr138Ala | |
| XM_005258364.5:c.412A>G | XP_005258421.1:p.Thr138Ala | |
| NM_031446.5:c.394A>G MANE Select | NP_113634.3:p.Thr132Ala | |
| NM_001201474.2:c.130A>G | NP_001188403.1:p.Thr44Ala | |
| NM_001201475.2:c.130A>G | NP_001188404.1:p.Thr44Ala | |
| NM_001201476.2:c.301-1332A>G | NP_001188405.1:n.301-1332A>G |