COSMIC:
COSM5020857 (not active)
COSM5020858 (not active)
Revel Score:
ENST00000346991
0.041
ENST00000260369
0.041
ENST00000399668 (MANE Select)
0.041
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.03141717 (MID)
Genomes Max Group AF
0.02181647 (NFE)
Exomes Max Group AF
0.0307168 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40622633C>G , CM000677.2:g.40622633C>G | GRCh38 |
| NC_000015.9:g.40914831C>G , CM000677.1:g.40914831C>G | GRCh37 |
| NC_000015.8:g.38702123C>G | NCBI36 |
| NG_033114.1:g.33385C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399668.7:c.2369C>G MANE Select | ENSP00000382576.3:p.Thr790Ser | |
| ENST00000346991.9:c.2447C>G | ENSP00000335463.6:p.Thr816Ser | |
| ENST00000399668.6:c.2369C>G | ENSP00000382576.2:p.Thr790Ser | |
| ENST00000527044.5:c.2369C>G | ENSP00000432654.2:p.Thr790Ser | |
| ENST00000533001.1:n.2514C>G | ||
| ENST00000534204.1:c.116-6691C>G | ENSP00000453857.1:n.116-6691C>G | |
| ENST00000614337.4:n.2685C>G | ||
| NM_144508.4:c.2369C>G | NP_653091.3:p.Thr790Ser | |
| NM_170589.4:c.2447C>G | NP_733468.3:p.Thr816Ser | |
| XM_011521816.1:c.2045C>G | XP_011520118.1:p.Thr682Ser | |
| XM_011521817.1:c.2369C>G | XP_011520119.1:p.Thr790Ser | |
| XM_017022432.1:c.2045C>G | XP_016877921.1:p.Thr682Ser | |
| NM_144508.5:c.2369C>G MANE Select | NP_653091.3:p.Thr790Ser | |
| NM_170589.5:c.2447C>G | NP_733468.3:p.Thr816Ser |