Revel Score:
ENST00000376372 (MANE Select)
0.404
ENST00000322995
0.404
ENST00000356463
0.404
ENST00000485908
0.404
ENST00000376368
0.404
ENST00000396681
0.404
ENST00000486337
0.598
ENST00000367375
0.598
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.49074856T>C , CM000685.2:g.49074856T>C | GRCh38 |
| NC_000023.10:g.48932515T>C , CM000685.1:g.48932515T>C | GRCh37 |
| NC_000023.9:g.48819459T>C | NCBI36 |
| NG_033004.1:g.30545A>G | |
| NG_033004.2:g.31315A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376372.9:c.1030A>G MANE Select | ENSP00000365551.3:p.Asn344Asp | |
| ENST00000322995.13:c.1063A>G | ENSP00000365543.5:p.Asn355Asp | |
| ENST00000356463.7:c.1033A>G | ENSP00000348848.3:p.Asn345Asp | |
| ENST00000367375.8:c.809A>G | ||
| ENST00000376358.4:c.521+508A>G | ENSP00000365536.3:n.521+508A>G | |
| ENST00000376368.7:c.1033A>G | ENSP00000365546.2:p.Asn345Asp | |
| ENST00000376372.8:c.1030A>G | ENSP00000365551.3:p.Asn344Asp | |
| ENST00000396681.9:c.913A>G | ENSP00000379913.5:p.Asn305Asp | |
| ENST00000433252.7:n.909A>G | ||
| ENST00000465806.6:n.2187A>G | ||
| ENST00000473974.5:c.*11A>G | ENSP00000417211.1:n.*11A>G | |
| ENST00000475977.2:c.380A>G | ENSP00000417754.2:n.380A>G | |
| ENST00000485908.6:c.925A>G | ENSP00000419897.1:p.Asn309Asp | |
| ENST00000486337.6:c.206A>G | ||
| ENST00000634559.1:c.817A>G | ENSP00000488986.1:p.Asn273Asp | |
| ENST00000634838.1:c.988A>G | ENSP00000489268.1:p.Asn330Asp | |
| ENST00000634852.1:n.727A>G | ||
| ENST00000634944.1:c.1030A>G | ENSP00000488972.1:p.Asn344Asp | |
| ENST00000635003.1:c.829A>G | ENSP00000489080.1:p.Asn277Asp | |
| NM_001029896.1:c.1030A>G | NP_001025067.1:p.Asn344Asp | |
| NM_007075.3:c.1033A>G | NP_009006.2:p.Asn345Asp | |
| NM_001029896.2:c.1030A>G MANE Select | NP_001025067.1:p.Asn344Asp | |
| NM_007075.4:c.1033A>G | NP_009006.2:p.Asn345Asp |