Revel Score:
ENST00000376917 (MANE Select)
0.399
ENST00000376902
0.399
ENST00000533330
0.399
ENST00000376894
0.399
ENST00000416766
0.399
ENST00000376891
0.399
ENST00000376898
0.399
ENST00000431798
0.399
ENST00000396701
0.399
ENST00000494692
0.399
ENST00000396704
0.399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.29659628C>G , CM000668.2:g.29659628C>G | GRCh38 |
| NC_000006.11:g.29627405C>G , CM000668.1:g.29627405C>G | GRCh37 |
| NC_000006.10:g.29735384C>G | NCBI36 |
| NG_031873.1:g.7648C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376917.8:c.398C>G MANE Select | ENSP00000366115.3:p.Ser133Cys | |
| ENST00000376888.6:c.88+2331C>G | ENSP00000366085.2:n.88+2331C>G | |
| ENST00000376889.3:c.310C>G | ||
| ENST00000376891.8:c.398C>G | ENSP00000366088.4:p.Ser133Cys | |
| ENST00000376894.8:c.398C>G | ENSP00000366091.4:p.Ser133Cys | |
| ENST00000376898.7:c.398C>G | ENSP00000366095.3:p.Ser133Cys | |
| ENST00000376903.4:c.*255C>G | ENSP00000366101.4:n.*255C>G | |
| ENST00000376917.7:c.398C>G | ENSP00000366115.3:p.Ser133Cys | |
| ENST00000396701.6:c.398C>G | ENSP00000379929.2:p.Ser133Cys | |
| ENST00000396704.7:c.398C>G | ENSP00000379932.3:p.Ser133Cys | |
| ENST00000416766.6:c.398C>G | ENSP00000409394.2:p.Ser133Cys | |
| ENST00000431798.6:c.398C>G | ENSP00000410866.2:p.Ser133Cys | |
| ENST00000469353.1:n.478C>G | ||
| ENST00000469603.1:n.392C>G | ||
| ENST00000476244.5:n.392C>G | ||
| ENST00000483013.5:c.88+2331C>G | ENSP00000418090.1:n.88+2331C>G | |
| ENST00000485211.5:c.310C>G | ||
| ENST00000490427.5:c.88+2331C>G | ENSP00000420350.1:n.88+2331C>G | |
| ENST00000494692.5:c.398C>G | ENSP00000417405.1:p.Ser133Cys | |
| NM_001008228.2:c.398C>G | NP_001008229.1:p.Ser133Cys | |
| NM_001008229.2:c.398C>G | NP_001008230.1:p.Ser133Cys | |
| NM_001170418.1:c.88+2331C>G | NP_001163889.1:n.88+2331C>G | |
| NM_002433.4:c.398C>G | NP_002424.3:p.Ser133Cys | |
| NM_206809.3:c.398C>G | NP_996532.2:p.Ser133Cys | |
| NM_206810.3:c.398C>G | NP_996533.2:p.Ser133Cys | |
| NM_206811.3:c.398C>G | NP_996534.2:p.Ser133Cys | |
| NM_206812.3:c.398C>G | NP_996535.2:p.Ser133Cys | |
| NM_206814.5:c.88+2331C>G | NP_996537.3:n.88+2331C>G | |
| XM_005249131.2:c.398C>G | XP_005249188.1:p.Ser133Cys | |
| XM_005249139.2:c.398C>G | XP_005249196.1:p.Ser133Cys | |
| NM_001363610.1:c.398C>G | NP_001350539.1:p.Ser133Cys | |
| NM_206809.4:c.398C>G MANE Select | NP_996532.2:p.Ser133Cys | |
| NM_001008228.3:c.398C>G | NP_001008229.1:p.Ser133Cys | |
| NM_001008229.3:c.398C>G | NP_001008230.1:p.Ser133Cys | |
| NM_001170418.2:c.88+2331C>G | NP_001163889.1:n.88+2331C>G | |
| NM_001363610.2:c.398C>G | NP_001350539.1:p.Ser133Cys | |
| NM_002433.5:c.398C>G | NP_002424.3:p.Ser133Cys | |
| NM_206810.4:c.398C>G | NP_996533.2:p.Ser133Cys | |
| NM_206811.4:c.398C>G | NP_996534.2:p.Ser133Cys | |
| NM_206812.4:c.398C>G | NP_996535.2:p.Ser133Cys | |
| NM_206814.6:c.88+2331C>G | NP_996537.3:n.88+2331C>G |