Revel Score:
ENST00000265537
0.546
ENST00000415258
0.546
ENST00000414984
0.546
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00005434 (AMR)
Genomes Max Group AF
0.00000798 (AFR)
Exomes Max Group AF
0.00007285 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.45516118C>T , CM000665.2:g.45516118C>T | GRCh38 |
| NC_000003.11:g.45557610C>T , CM000665.1:g.45557610C>T | GRCh37 |
| NC_000003.10:g.45532614C>T | NCBI36 |
| NG_033907.1:g.132536C>T | |
| NG_033907.2:g.132536C>T | |
| NG_033907.3:g.132555C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265537.8:c.*276C>T | ENSP00000265537.4:n.*276C>T | |
| ENST00000642274.1:c.1886C>T | ENSP00000495707.1:p.Thr629Met | |
| ENST00000645846.2:c.1886C>T MANE Select | ENSP00000495093.1:p.Thr629Met | |
| ENST00000650792.2:c.1886C>T | ENSP00000498867.1:p.Thr629Met | |
| ENST00000651549.1:c.*176C>T | ENSP00000499002.1:n.*176C>T | |
| ENST00000652135.1:c.*1754C>T | ENSP00000499104.1:n.*1754C>T | |
| ENST00000265537.7:c.1886C>T | ENSP00000265537.3:p.Thr629Met | |
| ENST00000414984.5:c.1757C>T | ENSP00000412893.1:p.Thr586Met | |
| ENST00000415258.5:c.1886C>T | ENSP00000408576.1:p.Thr629Met | |
| ENST00000467936.5:n.165C>T | ||
| NM_015340.3:c.1886C>T | NP_056155.1:p.Thr629Met | |
| XM_005265006.1:c.1886C>T | XP_005265063.1:p.Thr629Met | |
| XM_011533554.1:c.1886C>T | XP_011531856.1:p.Thr629Met | |
| XM_005265006.2:c.1886C>T | XP_005265063.1:p.Thr629Met | |
| XM_011533554.2:c.1886C>T | XP_011531856.1:p.Thr629Met | |
| XM_017006042.1:c.1886C>T | XP_016861531.1:p.Thr629Met | |
| NM_015340.4:c.1886C>T MANE Select | NP_056155.1:p.Thr629Met | |
| NM_001368263.1:c.1886C>T | NP_001355192.1:p.Thr629Met |