Revel Score:
ENST00000371589 (MANE Select)
0.246
ENST00000474902
0.246
ENST00000550113
0.128
ENST00000475449
0.134
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137108538G>T , CM000671.2:g.137108538G>T | GRCh38 |
| NC_000009.11:g.140002990G>T , CM000671.1:g.140002990G>T | GRCh37 |
| NC_000009.10:g.139122811G>T | NCBI36 |
| NG_031978.1:g.26612G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371587.9:c.*1724G>T | ENSP00000483132.2:n.*1724G>T | |
| ENST00000475449.7:c.1861G>T | ENSP00000448658.2:p.Ala621Ser | |
| ENST00000535028.6:n.4310G>T | ||
| ENST00000535144.6:c.*576G>T | ENSP00000441398.3:n.*576G>T | |
| ENST00000536268.2:n.3444G>T | ||
| ENST00000536349.6:n.4181G>T | ||
| ENST00000544448.6:c.*330G>T | ENSP00000444966.2:n.*330G>T | |
| ENST00000545539.6:c.*1949G>T | ENSP00000440314.2:n.*1949G>T | |
| ENST00000550113.2:n.598G>T | ||
| ENST00000682117.1:c.2008G>T | ENSP00000507328.1:p.Ala670Ser | |
| ENST00000682212.1:c.2043G>T | ENSP00000508217.1:p.Met681Ile | |
| ENST00000682425.1:n.2297G>T | ||
| ENST00000682502.1:n.2754G>T | ||
| ENST00000682881.1:c.1904G>T | ENSP00000506762.1:p.Cys635Phe | |
| ENST00000682964.1:n.2493G>T | ||
| ENST00000683135.1:c.*369G>T | ENSP00000507130.1:n.*369G>T | |
| ENST00000683324.1:c.2044G>T | ENSP00000507373.1:p.Ala682Ser | |
| ENST00000683355.1:c.*261G>T | ENSP00000508045.1:n.*261G>T | |
| ENST00000683475.1:c.*820G>T | ENSP00000507749.1:n.*820G>T | |
| ENST00000683529.1:n.1256G>T | ||
| ENST00000683979.1:c.*5993G>T | ENSP00000507362.1:n.*5993G>T | |
| ENST00000683987.1:c.*89G>T | ENSP00000507715.1:n.*89G>T | |
| ENST00000684138.1:c.*1749G>T | ENSP00000506755.1:n.*1749G>T | |
| ENST00000684144.1:c.2041G>T | ENSP00000508213.1:p.Ala681Ser | |
| ENST00000684229.1:n.2173G>T | ||
| ENST00000684272.1:c.*1952G>T | ENSP00000506776.1:n.*1952G>T | |
| ENST00000684297.1:c.*928G>T | ENSP00000507160.1:n.*928G>T | |
| ENST00000684336.1:n.5197G>T | ||
| ENST00000684366.1:c.*530G>T | ENSP00000507668.1:n.*530G>T | |
| ENST00000684645.1:n.6519G>T | ||
| ENST00000684759.1:c.2040G>T | ENSP00000507818.1:p.Met680Ile | |
| ENST00000371589.9:c.2047G>T MANE Select | ENSP00000360645.4:p.Ala683Ser | |
| ENST00000371589.8:c.2047G>T | ENSP00000360645.4:p.Ala683Ser | |
| ENST00000474902.5:n.1693G>T | ||
| ENST00000475449.6:c.324G>T | ||
| ENST00000480100.3:n.2840G>T | ||
| ENST00000535028.5:n.3243G>T | ||
| ENST00000536349.5:n.4405G>T | ||
| ENST00000540391.5:n.3297G>T | ||
| ENST00000544448.5:c.*369G>T | ENSP00000444966.2:n.*369G>T | |
| ENST00000550113.1:c.320G>T | ||
| NM_016219.4:c.2047G>T | NP_057303.2:p.Ala683Ser | |
| NR_045720.1:n.2095G>T | ||
| NR_045721.1:n.2251G>T | ||
| XM_006716945.4:c.*576G>T | XP_006717008.1:n.*576G>T | |
| XM_017014239.1:c.*576G>T | XP_016869728.1:n.*576G>T | |
| XM_024447403.1:c.2130G>T | XP_024303171.1:p.Met710Ile | |
| XR_001746176.1:n.2212G>T | ||
| NM_016219.5:c.2047G>T MANE Select | NP_057303.2:p.Ala683Ser | |
| NR_045720.2:n.2037G>T | ||
| NR_045721.2:n.2193G>T |