Revel Score:
ENST00000359526 (MANE Select)
0.873
ENST00000540357
0.873
ENST00000340748
0.873
ENST00000541266
0.873
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10155018A>G , CM000681.2:g.10155018A>G | GRCh38 |
| NC_000019.9:g.10265694A>G , CM000681.1:g.10265694A>G | GRCh37 |
| NC_000019.8:g.10126694A>G | NCBI36 |
| NG_028016.3:g.81269T>C , LRG_362:g.81269T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359526.9:c.1531T>C MANE Select | ENSP00000352516.3:p.Tyr511His | |
| ENST00000676604.1:n.1143T>C | ||
| ENST00000676610.1:c.1483T>C | ENSP00000504236.1:p.Tyr495His | |
| ENST00000676820.1:n.1539T>C | ||
| ENST00000676868.1:n.2167T>C | ||
| ENST00000677013.1:c.*1173T>C | ENSP00000503135.1:n.*1173T>C | |
| ENST00000677250.1:c.*603T>C | ENSP00000502894.1:n.*603T>C | |
| ENST00000677616.1:c.1174T>C | ENSP00000503055.1:p.Tyr392His | |
| ENST00000677634.1:c.1483T>C | ENSP00000504246.1:p.Tyr495His | |
| ENST00000677685.1:c.*708T>C | ENSP00000503407.1:n.*708T>C | |
| ENST00000677783.1:n.1953T>C | ||
| ENST00000677946.1:c.1483T>C | ENSP00000504202.1:p.Tyr495His | |
| ENST00000678024.1:n.1626T>C | ||
| ENST00000678694.1:n.804T>C | ||
| ENST00000678804.1:c.1483T>C | ENSP00000503853.1:p.Tyr495His | |
| ENST00000679103.1:c.1483T>C | ENSP00000503151.1:p.Tyr495His | |
| ENST00000679313.1:c.1483T>C | ENSP00000504512.1:p.Tyr495His | |
| ENST00000340748.8:c.1483T>C | ENSP00000345739.3:p.Tyr495His | |
| ENST00000359526.8:c.1531T>C | ENSP00000352516.3:p.Tyr511His | |
| ENST00000540357.5:c.475T>C | ENSP00000440457.2:p.Tyr159His | |
| ENST00000585843.1:n.688T>C | ||
| ENST00000592705.5:c.*1221T>C | ENSP00000466657.1:n.*1221T>C | |
| NM_001130823.1:c.1531T>C , LRG_362t1:c.1531T>C | NP_001124295.1:p.Tyr511His | |
| NM_001379.2:c.1483T>C | NP_001370.1:p.Tyr495His | |
| XM_011527772.1:c.1531T>C | XP_011526074.1:p.Tyr511His | |
| XM_011527773.1:c.1483T>C | XP_011526075.1:p.Tyr495His | |
| XM_011527774.1:c.1120T>C | XP_011526076.1:p.Tyr374His | |
| NM_001130823.2:c.1531T>C | NP_001124295.1:p.Tyr511His | |
| NM_001318730.1:c.1483T>C | NP_001305659.1:p.Tyr495His | |
| NM_001318731.1:c.1168T>C | NP_001305660.1:p.Tyr390His | |
| NM_001379.3:c.1483T>C | NP_001370.1:p.Tyr495His | |
| NM_001130823.3:c.1531T>C MANE Select | NP_001124295.1:p.Tyr511His | |
| NM_001318730.2:c.1483T>C | NP_001305659.1:p.Tyr495His | |
| NM_001318731.2:c.1168T>C | NP_001305660.1:p.Tyr390His | |
| NM_001379.4:c.1483T>C | NP_001370.1:p.Tyr495His |