Revel Score:
ENST00000357578 (MANE Select)
0.190
ENST00000546278
0.190
ENST00000491546
0.190
ENST00000348925
0.190
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00081662 (AFR)
Genomes Max Group AF
0.00060075 (AFR)
Exomes Max Group AF
0.00092707 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24503366C>T , CM000668.2:g.24503366C>T | GRCh38 |
| NC_000006.11:g.24503594C>T , CM000668.1:g.24503594C>T | GRCh37 |
| NC_000006.10:g.24611573C>T | NCBI36 |
| NG_008161.1:g.13398C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357578.8:c.542C>T MANE Select | ENSP00000350191.3:p.Thr181Ile | |
| ENST00000672352.1:c.305C>T | ENSP00000500876.1:p.Thr102Ile | |
| ENST00000672557.1:c.460C>T | ||
| ENST00000672652.1:c.463C>T | ||
| ENST00000675422.1:n.1302C>T | ||
| ENST00000348925.2:c.542C>T | ENSP00000314649.3:p.Thr181Ile | |
| ENST00000357578.7:c.542C>T | ENSP00000350191.3:p.Thr181Ile | |
| ENST00000491546.5:c.458C>T | ENSP00000417687.1:p.Thr153Ile | |
| NM_001080.3:c.542C>T MANE Select | NP_001071.1:p.Thr181Ile | |
| NM_170740.1:c.542C>T | NP_733936.1:p.Thr181Ile | |
| NM_001368954.1:c.542C>T | NP_001355883.1:p.Thr181Ile |