Revel Score:
ENST00000373467 (MANE Select)
0.381
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.32889110C>T , CM000663.2:g.32889110C>T | GRCh38 |
| NC_000001.10:g.33354711C>T , CM000663.1:g.33354711C>T | GRCh37 |
| NC_000001.9:g.33127298C>T | NCBI36 |
| NG_042176.1:g.8024C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373467.4:c.212C>T MANE Select | ENSP00000362566.3:p.Thr71Ile | |
| ENST00000373467.3:c.212C>T | ENSP00000362566.3:p.Thr71Ile | |
| ENST00000459874.5:n.54+2595C>T | ||
| ENST00000470166.5:n.126+2991C>T | ||
| ENST00000480118.5:n.271C>T | ||
| NM_002143.2:c.212C>T | NP_002134.2:p.Thr71Ile | |
| XM_005270792.1:c.212C>T | XP_005270849.1:p.Thr71Ile | |
| XM_005270792.3:c.212C>T | XP_005270849.1:p.Thr71Ile | |
| XM_017001118.2:c.212C>T | XP_016856607.1:p.Thr71Ile | |
| NM_002143.3:c.212C>T MANE Select | NP_002134.2:p.Thr71Ile |