Revel Score:
ENST00000389794
0.636
ENST00000389793 (MANE Select)
0.636
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000445 (AFR)
Genomes Max Group AF
0.00000801 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.235733859C>A , CM000663.2:g.235733859C>A | GRCh38 |
| NC_000001.10:g.235897159C>A , CM000663.1:g.235897159C>A | GRCh37 |
| NC_000001.9:g.233963782C>A | NCBI36 |
| NG_007397.1:g.154782G>T , LRG_143:g.154782G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461526.2:c.4111G>T | ENSP00000513165.1:n.4111G>T | |
| ENST00000475277.2:c.678G>T | ENSP00000513164.1:p.Trp226Cys | |
| ENST00000697178.1:c.*4007G>T | ENSP00000513163.1:n.*4007G>T | |
| ENST00000697236.1:c.2292G>T | ENSP00000513203.1:p.Trp764Cys | |
| ENST00000697240.1:c.717G>T | ENSP00000513205.1:p.Trp239Cys | |
| ENST00000697241.1:c.3063G>T | ENSP00000513206.1:p.Trp1021Cys | |
| ENST00000389793.7:c.8583G>T MANE Select | ENSP00000374443.2:p.Trp2861Cys | |
| ENST00000389793.6:c.8583G>T | ENSP00000374443.2:p.Trp2861Cys | |
| ENST00000389794.7:c.*4007G>T | ENSP00000374444.4:n.*4007G>T | |
| ENST00000473037.5:n.3573G>T | ||
| NM_000081.3:c.8583G>T , LRG_143t1:c.8583G>T | NP_000072.2:p.Trp2861Cys | |
| NM_001301365.1:c.8583G>T , LRG_143t2:c.8583G>T | NP_001288294.1:p.Trp2861Cys | |
| XM_011544031.1:c.8745G>T | XP_011542333.1:p.Trp2915Cys | |
| XM_011544032.1:c.8745G>T | XP_011542334.1:p.Trp2915Cys | |
| XM_011544033.1:c.8745G>T | XP_011542335.1:p.Trp2915Cys | |
| XM_011544034.1:c.8607G>T | XP_011542336.1:p.Trp2869Cys | |
| XM_011544035.1:c.8745G>T | XP_011542337.1:p.Trp2915Cys | |
| XM_011544036.1:c.6408G>T | XP_011542338.1:p.Trp2136Cys | |
| XM_011544033.2:c.8745G>T | XP_011542335.1:p.Trp2915Cys | |
| XM_011544035.2:c.8745G>T | XP_011542337.1:p.Trp2915Cys | |
| XM_011544036.2:c.6408G>T | XP_011542338.1:p.Trp2136Cys | |
| XM_017000150.1:c.8745G>T | XP_016855639.1:p.Trp2915Cys | |
| XR_001736947.1:n.9618G>T | ||
| NM_000081.4:c.8583G>T MANE Select | NP_000072.2:p.Trp2861Cys |