Revel Score:
ENST00000261769 (MANE Select)
0.160
ENST00000379120
0.160
ENST00000268794
0.160
ENST00000422392
0.160
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00009 (AMR)
Genomes Max Group AF
0.00030728 (AMR)
Exomes Max Group AF
0.00001998 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68811705C>T , CM000678.2:g.68811705C>T | GRCh38 |
| NC_000016.9:g.68845608C>T , CM000678.1:g.68845608C>T | GRCh37 |
| NC_000016.8:g.67403109C>T | NCBI36 |
| NG_008021.1:g.79414C>T , LRG_301:g.79414C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261769.10:c.854C>T MANE Select | ENSP00000261769.4:p.Thr285Ile | |
| ENST00000261769.9:c.854C>T | ENSP00000261769.4:p.Thr285Ile | |
| ENST00000422392.6:c.854C>T | ENSP00000414946.2:p.Thr285Ile | |
| ENST00000561751.1:c.476C>T | ||
| ENST00000562836.5:n.925C>T | ||
| ENST00000566510.5:c.698C>T | ENSP00000458139.1:p.Thr233Ile | |
| ENST00000566612.5:c.854C>T | ENSP00000454782.1:p.Thr285Ile | |
| ENST00000611625.4:c.854C>T | ENSP00000481063.1:p.Thr285Ile | |
| ENST00000612417.4:c.854C>T | ENSP00000478360.1:p.Thr285Ile | |
| ENST00000621016.4:c.854C>T | ENSP00000480664.1:p.Thr285Ile | |
| NM_004360.3:c.854C>T , LRG_301t1:c.854C>T | NP_004351.1:p.Thr285Ile | |
| XM_011523488.1:c.119C>T | XP_011521790.1:p.Thr40Ile | |
| XM_011523489.1:c.119C>T | XP_011521791.1:p.Thr40Ile | |
| NM_001317184.1:c.854C>T | NP_001304113.1:p.Thr285Ile | |
| NM_001317185.1:c.-762C>T | NP_001304114.1:n.-762C>T | |
| NM_001317186.1:c.-966C>T | NP_001304115.1:n.-966C>T | |
| NM_004360.4:c.854C>T | NP_004351.1:p.Thr285Ile | |
| NM_004360.5:c.854C>T MANE Select | NP_004351.1:p.Thr285Ile | |
| NM_001317184.2:c.854C>T | NP_001304113.1:p.Thr285Ile | |
| NM_001317185.2:c.-762C>T | NP_001304114.1:n.-762C>T | |
| NM_001317186.2:c.-966C>T | NP_001304115.1:n.-966C>T |