Revel Score:
ENST00000295911
0.785
ENST00000327047 (MANE Select)
0.785
ENST00000328863
0.785
ENST00000468836
0.785
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000365 (SAS)
Exomes Max Group AF
0.00000385 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.150928174A>C , CM000665.2:g.150928174A>C | GRCh38 |
| NC_000003.11:g.150645961A>C , CM000665.1:g.150645961A>C | GRCh37 |
| NC_000003.10:g.152128651A>C | NCBI36 |
| NG_009168.1:g.49826T>G , LRG_700:g.49826T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327047.6:c.461T>G MANE Select | ENSP00000322280.1:p.Leu154Trp | |
| ENST00000468836.2:c.609T>G | ENSP00000419892.2:n.609T>G | |
| ENST00000295911.6:c.233T>G | ENSP00000295911.2:p.Leu78Trp | |
| ENST00000327047.5:c.461T>G | ENSP00000322280.1:p.Leu154Trp | |
| ENST00000328863.8:c.500T>G | ENSP00000329158.4:p.Leu167Trp | |
| ENST00000468836.1:c.233T>G | ENSP00000419892.1:p.Leu78Trp | |
| ENST00000562308.5:c.104+13408T>G | ||
| ENST00000565169.1:c.162+13408T>G | ||
| ENST00000569170.5:c.162+13408T>G | ||
| NM_001195794.1:c.500T>G , LRG_700t1:c.500T>G | NP_001182723.1:p.Leu167Trp | |
| NM_001256819.1:c.*75T>G | NP_001243748.1:n.*75T>G | |
| NM_052995.2:c.233T>G , LRG_700t2:c.233T>G | NP_443721.1:p.Leu78Trp | |
| NM_174878.2:c.461T>G | NP_777367.1:p.Leu154Trp | |
| NR_046380.2:n.942T>G | ||
| XR_924167.1:n.773T>G | ||
| NM_001256819.2:c.*75T>G | NP_001243748.1:n.*75T>G | |
| NM_174878.3:c.461T>G MANE Select | NP_777367.1:p.Leu154Trp | |
| NR_046380.3:n.670T>G |