Revel Score:
ENST00000323929 (MANE Select)
0.880
ENST00000407439
0.880
ENST00000323977
0.880
ENST00000393241
0.880
ENST00000540013
0.880
ENST00000536754
0.880
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.94479726T>A , CM000673.2:g.94479726T>A | GRCh38 |
| NC_000011.9:g.94212892T>A , CM000673.1:g.94212892T>A | GRCh37 |
| NC_000011.8:g.93852540T>A | NCBI36 |
| NG_007261.1:g.19149A>T , LRG_85:g.19149A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323929.8:c.350A>T MANE Select | ENSP00000325863.4:p.Asn117Ile | |
| ENST00000323929.7:c.350A>T | ENSP00000325863.3:p.Asn117Ile | |
| ENST00000323977.7:c.350A>T | ENSP00000326094.3:p.Asn117Ile | |
| ENST00000393241.8:c.350A>T | ENSP00000376933.4:p.Asn117Ile | |
| ENST00000407439.7:c.359A>T | ENSP00000385614.3:p.Asn120Ile | |
| ENST00000536754.5:c.350A>T | ENSP00000439511.1:p.Asn117Ile | |
| ENST00000540013.5:c.350A>T | ENSP00000440986.1:p.Asn117Ile | |
| ENST00000541157.5:n.479-850A>T | ||
| NM_005590.3:c.350A>T | NP_005581.2:p.Asn117Ile | |
| NM_005591.3:c.350A>T , LRG_85t1:c.350A>T | NP_005582.1:p.Asn117Ile | |
| XM_005274008.2:c.-119A>T | XP_005274065.1:n.-119A>T | |
| XM_006718842.2:c.350A>T | XP_006718905.1:p.Asn117Ile | |
| XM_011542837.1:c.350A>T | XP_011541139.1:p.Asn117Ile | |
| XR_947828.1:n.646A>T | ||
| NM_001330347.1:c.350A>T | NP_001317276.1:p.Asn117Ile | |
| XM_005274008.3:c.-119A>T | XP_005274065.1:n.-119A>T | |
| XM_006718842.3:c.350A>T | XP_006718905.1:p.Asn117Ile | |
| XM_011542837.2:c.350A>T | XP_011541139.1:p.Asn117Ile | |
| XM_017017772.1:c.350A>T | XP_016873261.1:p.Asn117Ile | |
| XR_947828.2:n.646A>T | ||
| NM_001330347.2:c.350A>T | NP_001317276.1:p.Asn117Ile | |
| NM_005590.4:c.350A>T | NP_005581.2:p.Asn117Ile | |
| NM_005591.4:c.350A>T MANE Select | NP_005582.1:p.Asn117Ile |