Revel Score:
ENST00000242839 (MANE Select)
0.878
ENST00000400366
0.878
ENST00000417240
0.878
ENST00000448424
0.878
ENST00000400370
0.878
ENST00000418097
0.878
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.51949700C>A , CM000675.2:g.51949700C>A | GRCh38 |
| NC_000013.10:g.52523836C>A , CM000675.1:g.52523836C>A | GRCh37 |
| NC_000013.9:g.51421837C>A | NCBI36 |
| NG_008806.1:g.66795G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000634296.2:c.*660G>T | ENSP00000489512.2:n.*660G>T | |
| ENST00000673864.2:c.*1571G>T | ENSP00000501045.2:n.*1571G>T | |
| ENST00000674147.2:c.2244+307G>T | ENSP00000500964.2:n.2244+307G>T | |
| ENST00000242839.10:c.2827G>T MANE Select | ENSP00000242839.5:p.Gly943Cys | |
| ENST00000344297.9:c.2244+307G>T | ENSP00000342559.5:n.2244+307G>T | |
| ENST00000400366.6:c.2494G>T | ENSP00000383217.3:p.Gly832Cys | |
| ENST00000448424.7:c.2575G>T | ENSP00000416738.3:p.Gly859Cys | |
| ENST00000673772.1:c.2593G>T | ENSP00000501168.1:p.Gly865Cys | |
| ENST00000674126.1:n.7G>T | ||
| ENST00000674147.1:c.1800+307G>T | ENSP00000500964.1:n.1800+307G>T | |
| ENST00000242839.8:c.2827G>T | ENSP00000242839.4:p.Gly943Cys | |
| ENST00000344297.8:c.2244+307G>T | ENSP00000342559.5:n.2244+307G>T | |
| ENST00000400366.5:c.2494G>T | ENSP00000383217.3:p.Gly832Cys | |
| ENST00000400370.8:c.1537G>T | ENSP00000383221.3:p.Gly513Cys | |
| ENST00000418097.7:c.2827G>T | ENSP00000393343.2:p.Gly943Cys | |
| ENST00000448424.6:c.2593G>T | ENSP00000416738.2:p.Gly865Cys | |
| ENST00000634296.1:c.788G>T | ||
| ENST00000634308.1:c.2593G>T | ENSP00000489234.1:p.Gly865Cys | |
| ENST00000634620.1:n.3609+16G>T | ||
| ENST00000634810.1:n.2172G>T | ||
| ENST00000634844.1:c.2683G>T | ENSP00000489398.1:p.Gly895Cys | |
| ENST00000635406.1:n.212-3222G>T | ||
| NM_000053.3:c.2827G>T | NP_000044.2:p.Gly943Cys | |
| NM_001005918.2:c.2244+307G>T | NP_001005918.1:n.2244+307G>T | |
| NM_001243182.1:c.2494G>T | NP_001230111.1:p.Gly832Cys | |
| XM_005266423.2:c.2731G>T | XP_005266480.1:p.Gly911Cys | |
| XM_005266424.3:c.2731G>T | XP_005266481.1:p.Gly911Cys | |
| XM_005266427.2:c.2593G>T | XP_005266484.1:p.Gly865Cys | |
| XM_005266428.1:c.2575G>T | XP_005266485.1:p.Gly859Cys | |
| XM_005266430.3:c.2827G>T | XP_005266487.1:p.Gly943Cys | |
| XM_005266431.2:c.2791G>T | XP_005266488.1:p.Gly931Cys | |
| XM_005266432.2:c.2341G>T | XP_005266489.1:p.Gly781Cys | |
| XM_006719837.2:c.2731G>T | XP_006719900.1:p.Gly911Cys | |
| XM_006719838.1:c.643G>T | XP_006719901.1:p.Gly215Cys | |
| XM_006719839.1:c.643G>T | XP_006719902.1:p.Gly215Cys | |
| XM_011535117.1:c.2731G>T | XP_011533419.1:p.Gly911Cys | |
| XM_011535118.1:c.2730+307G>T | XP_011533420.1:n.2730+307G>T | |
| XM_011535119.1:c.2827G>T | XP_011533421.1:p.Gly943Cys | |
| XM_011535120.1:c.2413G>T | XP_011533422.1:p.Gly805Cys | |
| XM_011535121.1:c.2730+307G>T | XP_011533423.1:n.2730+307G>T | |
| XM_011535122.1:c.1495G>T | XP_011533424.1:p.Gly499Cys | |
| XR_941601.1:n.3046G>T | ||
| XR_941602.1:n.3046G>T | ||
| XR_941603.1:n.3046G>T | ||
| XR_941604.1:n.3046G>T | ||
| NM_001330578.1:c.2593G>T | NP_001317507.1:p.Gly865Cys | |
| NM_001330579.1:c.2575G>T | NP_001317508.1:p.Gly859Cys | |
| XM_005266424.4:c.2731G>T | XP_005266481.1:p.Gly911Cys | |
| XM_005266430.4:c.2827G>T | XP_005266487.1:p.Gly943Cys | |
| XM_005266431.4:c.2791G>T | XP_005266488.1:p.Gly931Cys | |
| XM_006719837.3:c.2731G>T | XP_006719900.1:p.Gly911Cys | |
| XM_011535117.3:c.2731G>T | XP_011533419.1:p.Gly911Cys | |
| XM_017020627.1:c.2731G>T | XP_016876116.1:p.Gly911Cys | |
| NM_000053.4:c.2827G>T MANE Select | NP_000044.2:p.Gly943Cys | |
| NM_001005918.3:c.2244+307G>T | NP_001005918.1:n.2244+307G>T | |
| NM_001330579.2:c.2575G>T | NP_001317508.1:p.Gly859Cys | |
| NM_001243182.2:c.2494G>T | NP_001230111.1:p.Gly832Cys | |
| NM_001330578.2:c.2593G>T | NP_001317507.1:p.Gly865Cys |