Revel Score:
ENST00000261769 (MANE Select)
0.401
ENST00000379120
0.401
ENST00000422392
0.401
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000365 (SAS)
Exomes Max Group AF
0.00000385 (SAS)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68828203C>T , CM000678.2:g.68828203C>T | GRCh38 |
| NC_000016.9:g.68862106C>T , CM000678.1:g.68862106C>T | GRCh37 |
| NC_000016.8:g.67419607C>T | NCBI36 |
| NG_008021.1:g.95912C>T , LRG_301:g.95912C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261769.10:c.2194C>T MANE Select | ENSP00000261769.4:p.Arg732Trp | |
| ENST00000261769.9:c.2194C>T | ENSP00000261769.4:p.Arg732Trp | |
| ENST00000422392.6:c.2011C>T | ENSP00000414946.2:p.Arg671Trp | |
| ENST00000562118.1:n.412C>T | ||
| ENST00000562836.5:n.2265C>T | ||
| ENST00000566510.5:c.*860C>T | ENSP00000458139.1:n.*860C>T | |
| ENST00000566612.5:c.*434C>T | ENSP00000454782.1:n.*434C>T | |
| ENST00000611625.4:c.2257C>T | ENSP00000481063.1:p.Arg753Trp | |
| ENST00000612417.4:c.1853+1649C>T | ENSP00000478360.1:n.1853+1649C>T | |
| ENST00000621016.4:c.1866-6000C>T | ENSP00000480664.1:n.1866-6000C>T | |
| NM_004360.3:c.2194C>T , LRG_301t1:c.2194C>T | NP_004351.1:p.Arg732Trp | |
| XM_011523488.1:c.1459C>T | XP_011521790.1:p.Arg487Trp | |
| XM_011523489.1:c.1459C>T | XP_011521791.1:p.Arg487Trp | |
| NM_001317184.1:c.2011C>T | NP_001304113.1:p.Arg671Trp | |
| NM_001317185.1:c.646C>T | NP_001304114.1:p.Arg216Trp | |
| NM_001317186.1:c.229C>T | NP_001304115.1:p.Arg77Trp | |
| NM_004360.4:c.2194C>T | NP_004351.1:p.Arg732Trp | |
| NM_004360.5:c.2194C>T MANE Select | NP_004351.1:p.Arg732Trp | |
| NM_001317184.2:c.2011C>T | NP_001304113.1:p.Arg671Trp | |
| NM_001317185.2:c.646C>T | NP_001304114.1:p.Arg216Trp | |
| NM_001317186.2:c.229C>T | NP_001304115.1:p.Arg77Trp |