COSMIC:
COSM1747194 (not active)
Revel Score:
ENST00000360168
0.144
ENST00000358945
0.144
ENST00000540037
0.144
ENST00000228916 (MANE Select)
0.144
ENST00000543768
0.144
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.90431875 (AFR)
Genomes Max Group AF
0.89722766 (AFR)
Exomes Max Group AF
0.90788189 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6347896T>C , CM000674.2:g.6347896T>C | GRCh38 |
| NC_000012.11:g.6457062T>C , CM000674.1:g.6457062T>C | GRCh37 |
| NC_000012.10:g.6327323T>C | NCBI36 |
| NG_011945.1:g.34462A>G | |
| NG_011945.2:g.34462A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000228916.7:c.1987A>G MANE Select | ENSP00000228916.2:p.Thr663Ala | |
| ENST00000228916.6:c.1987A>G | ENSP00000228916.2:p.Thr663Ala | |
| ENST00000338748.9:c.*1058A>G | ENSP00000345028.5:n.*1058A>G | |
| ENST00000360168.7:c.2164A>G | ENSP00000353292.3:p.Thr722Ala | |
| ENST00000396966.6:c.*393A>G | ENSP00000380166.2:n.*393A>G | |
| ENST00000540037.5:c.1087A>G | ENSP00000440876.1:p.Thr363Ala | |
| ENST00000543768.1:c.2056A>G | ENSP00000438739.1:p.Thr686Ala | |
| NM_001038.5:c.1987A>G | NP_001029.1:p.Thr663Ala | |
| NM_001159575.1:c.2056A>G | NP_001153047.1:p.Thr686Ala | |
| NM_001159576.1:c.2164A>G | NP_001153048.1:p.Thr722Ala | |
| NM_001038.6:c.1987A>G MANE Select | NP_001029.1:p.Thr663Ala | |
| NM_001159576.2:c.2164A>G | NP_001153048.1:p.Thr722Ala | |
| NM_001159575.2:c.2056A>G | NP_001153047.1:p.Thr686Ala |