Revel Score:
ENST00000380152 (MANE Select)
0.725
ENST00000544455
0.725
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32394803A>G , CM000675.2:g.32394803A>G | GRCh38 |
| NC_000013.10:g.32968940A>G , CM000675.1:g.32968940A>G | GRCh37 |
| NC_000013.9:g.31866940A>G | NCBI36 |
| NG_012772.3:g.84324A>G , LRG_293:g.84324A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.9371A>G | ENSP00000434898.2:p.Asn3124Ser | |
| ENST00000528762.2:c.*738A>G | ENSP00000433168.2:n.*738A>G | |
| ENST00000530893.7:c.9002A>G | ENSP00000499438.2:p.Asn3001Ser | |
| ENST00000665585.2:c.*933A>G | ENSP00000499570.2:n.*933A>G | |
| ENST00000666593.2:c.*216A>G | ENSP00000499256.2:n.*216A>G | |
| ENST00000700202.2:c.9320A>G | ENSP00000514856.2:p.Asn3107Ser | |
| ENST00000700202.1:c.1787A>G | ENSP00000514856.1:p.Asn596Ser | |
| ENST00000700203.1:n.1498A>G | ||
| ENST00000380152.8:c.9371A>G MANE Select | ENSP00000369497.3:p.Asn3124Ser | |
| ENST00000544455.6:c.9371A>G | ENSP00000439902.1:p.Asn3124Ser | |
| ENST00000614259.2:c.9379A>G | ENSP00000506251.1:n.9379A>G | |
| ENST00000665585.1:c.2249A>G | ||
| ENST00000666593.1:c.393A>G | ENSP00000499256.1:n.393A>G | |
| ENST00000680887.1:c.9371A>G | ENSP00000505508.1:p.Asn3124Ser | |
| ENST00000380152.7:c.9371A>G | ENSP00000369497.3:p.Asn3124Ser | |
| ENST00000470094.1:c.328A>G | ||
| ENST00000544455.5:c.9371A>G | ENSP00000439902.1:p.Asn3124Ser | |
| NM_000059.3:c.9371A>G , LRG_293t1:c.9371A>G | NP_000050.2:p.Asn3124Ser | |
| XM_011535203.1:c.9371A>G | XP_011533505.1:p.Asn3124Ser | |
| XM_011535204.1:c.9275A>G | XP_011533506.1:p.Asn3092Ser | |
| NM_000059.4:c.9371A>G MANE Select | NP_000050.3:p.Asn3124Ser |