COSMIC:
COSM433785 (not active)
COSM433786 (not active)
Revel Score:
ENST00000346991
0.075
ENST00000260369
0.075
ENST00000527044
0.075
ENST00000399668 (MANE Select)
0.075
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.90448674 (AFR)
Genomes Max Group AF
0.9061546 (AFR)
Exomes Max Group AF
0.77664601 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40611486A>G , CM000677.2:g.40611486A>G | GRCh38 |
| NC_000015.9:g.40903684A>G , CM000677.1:g.40903684A>G | GRCh37 |
| NC_000015.8:g.38690976A>G | NCBI36 |
| NG_033114.1:g.22238A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399668.7:c.259A>G MANE Select | ENSP00000382576.3:p.Thr87Ala | |
| ENST00000346991.9:c.337A>G | ENSP00000335463.6:p.Thr113Ala | |
| ENST00000399668.6:c.259A>G | ENSP00000382576.2:p.Thr87Ala | |
| ENST00000527044.5:c.259A>G | ENSP00000432654.2:p.Thr87Ala | |
| ENST00000533001.1:n.404A>G | ||
| ENST00000534204.1:c.115+5054A>G | ENSP00000453857.1:n.115+5054A>G | |
| ENST00000614337.4:n.628A>G | ||
| NM_144508.4:c.259A>G | NP_653091.3:p.Thr87Ala | |
| NM_170589.4:c.337A>G | NP_733468.3:p.Thr113Ala | |
| XM_011521817.1:c.259A>G | XP_011520119.1:p.Thr87Ala | |
| XM_017022432.1:c.-41+1189A>G | XP_016877921.1:n.-41+1189A>G | |
| NM_144508.5:c.259A>G MANE Select | NP_653091.3:p.Thr87Ala | |
| NM_170589.5:c.337A>G | NP_733468.3:p.Thr113Ala |