Revel Score:
ENST00000440576
0.102
gnomAD v2:
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.45835591G>A , CM000665.2:g.45835591G>A | GRCh38 |
| NC_000003.11:g.45877083G>A , CM000665.1:g.45877083G>A | GRCh37 |
| NC_000003.10:g.45852087G>A | NCBI36 |
| NG_033917.1:g.85134C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000490463.6:c.271C>T | ENSP00000506299.2:p.Arg91Ter | |
| ENST00000699186.1:n.255C>T | ||
| ENST00000699187.1:c.322C>T | ENSP00000514188.1:p.Arg108Ter | |
| ENST00000684620.1:c.271C>T | ENSP00000506925.1:p.Arg91Ter | |
| ENST00000296135.11:c.322C>T MANE Select | ENSP00000296135.6:p.Arg108Ter | |
| ENST00000418700.6:c.*303C>T | ENSP00000416427.2:n.*303C>T | |
| ENST00000296135.10:c.322C>T | ENSP00000296135.6:p.Arg108Ter | |
| ENST00000411866.5:c.168C>T | ENSP00000397589.1:p.Thr56= | |
| ENST00000418700.5:c.*337C>T | ENSP00000416427.1:n.*337C>T | |
| ENST00000440576.2:c.194C>T | ||
| ENST00000445698.1:c.271C>T | ||
| ENST00000448111.5:c.*212C>T | ENSP00000400177.1:n.*212C>T | |
| ENST00000469874.5:n.207C>T | ||
| ENST00000480156.5:n.467C>T | ||
| ENST00000490463.5:n.485C>T | ||
| ENST00000495864.5:n.476C>T | ||
| ENST00000536047.5:c.271C>T | ENSP00000439522.1:p.Arg91Ter | |
| ENST00000539217.5:c.310C>T | ENSP00000441784.1:p.Arg104Ter | |
| NM_001276378.1:c.271C>T | NP_001263307.1:p.Arg91Ter | |
| NM_001276379.1:c.310C>T | NP_001263308.1:p.Arg104Ter | |
| NM_020347.3:c.322C>T | NP_065080.1:p.Arg108Ter | |
| NR_075080.1:n.364C>T | ||
| XM_006713207.2:c.322C>T | XP_006713270.2:p.Arg108Ter | |
| XM_011533838.1:c.271C>T | XP_011532140.1:p.Arg91Ter | |
| XM_011533839.1:c.352C>T | XP_011532141.1:p.Arg118Ter | |
| XM_006713207.3:c.322C>T | XP_006713270.2:p.Arg108Ter | |
| XM_011533838.2:c.271C>T | XP_011532140.1:p.Arg91Ter | |
| XM_017006645.2:c.349C>T | XP_016862134.1:p.Arg117Ter | |
| NM_020347.4:c.322C>T MANE Select | NP_065080.1:p.Arg108Ter | |
| NR_075080.2:n.325C>T | ||
| NM_001276378.2:c.271C>T | NP_001263307.1:p.Arg91Ter | |
| NM_001276379.2:c.310C>T | NP_001263308.1:p.Arg104Ter | |
| NM_001386451.1:c.271C>T | NP_001373380.1:p.Arg91Ter | |
| NM_001386452.1:c.322C>T | NP_001373381.1:p.Arg108Ter |