Revel Score:
ENST00000302277 (MANE Select)
0.016
gnomAD v2:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.184937516C>T , CM000664.2:g.184937516C>T | GRCh38 |
| NC_000002.11:g.185802243C>T , CM000664.1:g.185802243C>T | GRCh37 |
| NC_000002.10:g.185510488C>T | NCBI36 |
| NG_046950.1:g.344151C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302277.7:c.2120C>T MANE Select | ENSP00000303252.6:p.Thr707Ile | |
| ENST00000302277.6:c.2120C>T | ENSP00000303252.6:p.Thr707Ile | |
| ENST00000613975.1:c.1865C>T | ENSP00000483032.1:p.Thr622Ile | |
| NM_194250.1:c.2120C>T | NP_919226.1:p.Thr707Ile | |
| NM_194250.2:c.2120C>T MANE Select | NP_919226.1:p.Thr707Ile |