Revel Score:
ENST00000205890
0.804
ENST00000418233
0.804
gnomAD v2:
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.18166449G>T , CM000679.2:g.18166449G>T | GRCh38 |
| NC_000017.10:g.18069763G>T , CM000679.1:g.18069763G>T | GRCh37 |
| NC_000017.9:g.18010488G>T | NCBI36 |
| NG_011634.1:g.62744G>T | |
| NG_011634.2:g.62744G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642418.1:n.2140G>T | ||
| ENST00000643693.1:n.1678G>T | ||
| ENST00000644795.1:c.1668G>T | ENSP00000495720.1:p.Trp556Cys | |
| ENST00000646782.1:n.2610G>T | ||
| ENST00000647165.2:c.9876G>T MANE Select | ENSP00000495481.1:p.Trp3292Cys | |
| ENST00000651214.1:n.2307G>T | ||
| ENST00000205890.9:c.9876G>T | ENSP00000205890.5:p.Trp3292Cys | |
| ENST00000418233.7:c.1668G>T | ENSP00000408800.3:p.Trp556Cys | |
| ENST00000433411.7:n.1326G>T | ||
| ENST00000445289.6:n.718-1141G>T | ||
| ENST00000578575.1:c.351-1141G>T | ||
| ENST00000579848.6:c.502+2611G>T | ENSP00000465910.1:n.502+2611G>T | |
| ENST00000615845.4:c.9876G>T | ENSP00000481642.1:p.Trp3292Cys | |
| NM_016239.3:c.9876G>T | NP_057323.3:p.Trp3292Cys | |
| XM_011523921.1:c.9870G>T | XP_011522223.1:p.Trp3290Cys | |
| XM_017024714.2:c.9816G>T | XP_016880203.1:p.Trp3272Cys | |
| XM_017024715.2:c.9879G>T | XP_016880204.1:p.Trp3293Cys | |
| NM_016239.4:c.9876G>T MANE Select | NP_057323.3:p.Trp3292Cys |