Revel Score:
ENST00000541315
0.734
ENST00000540732
0.967
ENST00000269980 (MANE Select)
0.967
ENST00000542943
0.967
ENST00000457836
0.967
ENST00000378196
0.967
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000365 (SAS)
Exomes Max Group AF
0.00000385 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41419282C>T , CM000681.2:g.41419282C>T | GRCh38 |
| NC_000019.9:g.41925187C>T , CM000681.1:g.41925187C>T | GRCh37 |
| NC_000019.8:g.46617027C>T | NCBI36 |
| NG_013004.1:g.26494C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269980.7:c.632C>T MANE Select | ENSP00000269980.2:p.Thr211Met | |
| ENST00000269980.6:c.632C>T | ENSP00000269980.2:p.Thr211Met | |
| ENST00000457836.6:c.566C>T | ENSP00000416000.2:p.Thr189Met | |
| ENST00000535632.5:n.261C>T | ||
| ENST00000538423.5:n.758C>T | ||
| ENST00000540732.3:c.734C>T | ENSP00000443246.1:p.Thr245Met | |
| ENST00000541315.1:c.532C>T | ||
| ENST00000542943.5:c.545C>T | ENSP00000440345.1:p.Thr182Met | |
| ENST00000545787.1:n.260C>T | ||
| ENST00000595085.5:c.632C>T | ENSP00000471150.2:p.Thr211Met | |
| NM_000709.3:c.632C>T | NP_000700.1:p.Thr211Met | |
| NM_001164783.1:c.632C>T | NP_001158255.1:p.Thr211Met | |
| NM_000709.4:c.632C>T MANE Select | NP_000700.1:p.Thr211Met | |
| NM_001164783.2:c.632C>T | NP_001158255.1:p.Thr211Met |