Revel Score:
ENST00000373203 (MANE Select)
0.364
ENST00000344849
0.364
ENST00000545345
0.364
ENST00000546301
0.364
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127825259A>T , CM000671.2:g.127825259A>T | GRCh38 |
| NC_000009.11:g.130587538A>T , CM000671.1:g.130587538A>T | GRCh37 |
| NC_000009.10:g.129627359A>T | NCBI36 |
| NG_009551.1:g.34510T>A , LRG_589:g.34510T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480266.6:c.242T>A | ENSP00000479015.1:p.Ile81Asn | |
| ENST00000373203.9:c.788T>A MANE Select | ENSP00000362299.4:p.Ile263Asn | |
| ENST00000344849.4:c.788T>A | ENSP00000341917.3:p.Ile263Asn | |
| ENST00000373203.8:c.788T>A | ENSP00000362299.4:p.Ile263Asn | |
| ENST00000480266.5:c.242T>A | ENSP00000479015.1:p.Ile81Asn | |
| NM_000118.3:c.788T>A , LRG_589t1:c.788T>A | NP_000109.1:p.Ile263Asn | |
| NM_001114753.2:c.788T>A , LRG_589t2:c.788T>A | NP_001108225.1:p.Ile263Asn | |
| NM_001278138.1:c.242T>A | NP_001265067.1:p.Ile81Asn | |
| NM_001114753.3:c.788T>A MANE Select | NP_001108225.1:p.Ile263Asn | |
| NM_001278138.2:c.242T>A | NP_001265067.1:p.Ile81Asn |