Revel Score:
ENST00000325874
0.281
ENST00000394744
0.281
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00010542 (NFE)
Genomes Max Group AF
0.00003248 (AFR)
Exomes Max Group AF
0.00011099 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31528536C>T , CM000679.2:g.31528536C>T | GRCh38 |
| NC_000017.10:g.29855554C>T , CM000679.1:g.29855554C>T | GRCh37 |
| NC_000017.9:g.26879674C>T | NCBI36 |
| NG_051977.1:g.141913C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000621161.5:c.1487C>T MANE Select | ENSP00000482620.1:p.Thr496Met | |
| ENST00000394744.6:c.1181C>T | ENSP00000378227.2:p.Thr394Met | |
| ENST00000621161.4:c.1487C>T | ENSP00000482620.1:p.Thr496Met | |
| NM_001303542.2:c.1181C>T | NP_001290471.2:p.Thr394Met | |
| NM_032932.5:c.1487C>T | NP_116321.2:p.Thr496Met | |
| NM_001346747.1:c.986C>T | NP_001333676.1:p.Thr329Met | |
| NM_001346748.1:c.1064C>T | NP_001333677.1:p.Thr355Met | |
| NM_001346749.1:c.707C>T | NP_001333678.1:p.Thr236Met | |
| NM_032932.6:c.1487C>T MANE Select | NP_116321.2:p.Thr496Met | |
| NM_001303542.3:c.1181C>T | NP_001290471.2:p.Thr394Met | |
| NM_001346747.2:c.986C>T | NP_001333676.1:p.Thr329Met | |
| NM_001346748.2:c.1064C>T | NP_001333677.1:p.Thr355Met | |
| NM_001346749.2:c.707C>T | NP_001333678.1:p.Thr236Met |