Revel Score:
ENST00000380152 (MANE Select)
0.774
ENST00000544455
0.774
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32394803A>C , CM000675.2:g.32394803A>C | GRCh38 |
| NC_000013.10:g.32968940A>C , CM000675.1:g.32968940A>C | GRCh37 |
| NC_000013.9:g.31866940A>C | NCBI36 |
| NG_012772.3:g.84324A>C , LRG_293:g.84324A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.9371A>C | ENSP00000434898.2:p.Asn3124Thr | |
| ENST00000528762.2:c.*738A>C | ENSP00000433168.2:n.*738A>C | |
| ENST00000530893.7:c.9002A>C | ENSP00000499438.2:p.Asn3001Thr | |
| ENST00000665585.2:c.*933A>C | ENSP00000499570.2:n.*933A>C | |
| ENST00000666593.2:c.*216A>C | ENSP00000499256.2:n.*216A>C | |
| ENST00000700202.2:c.9320A>C | ENSP00000514856.2:p.Asn3107Thr | |
| ENST00000700202.1:c.1787A>C | ENSP00000514856.1:p.Asn596Thr | |
| ENST00000700203.1:n.1498A>C | ||
| ENST00000380152.8:c.9371A>C MANE Select | ENSP00000369497.3:p.Asn3124Thr | |
| ENST00000544455.6:c.9371A>C | ENSP00000439902.1:p.Asn3124Thr | |
| ENST00000614259.2:c.9379A>C | ENSP00000506251.1:n.9379A>C | |
| ENST00000665585.1:c.2249A>C | ||
| ENST00000666593.1:c.393A>C | ENSP00000499256.1:n.393A>C | |
| ENST00000680887.1:c.9371A>C | ENSP00000505508.1:p.Asn3124Thr | |
| ENST00000380152.7:c.9371A>C | ENSP00000369497.3:p.Asn3124Thr | |
| ENST00000470094.1:c.328A>C | ||
| ENST00000544455.5:c.9371A>C | ENSP00000439902.1:p.Asn3124Thr | |
| NM_000059.3:c.9371A>C , LRG_293t1:c.9371A>C | NP_000050.2:p.Asn3124Thr | |
| XM_011535203.1:c.9371A>C | XP_011533505.1:p.Asn3124Thr | |
| XM_011535204.1:c.9275A>C | XP_011533506.1:p.Asn3092Thr | |
| NM_000059.4:c.9371A>C MANE Select | NP_000050.3:p.Asn3124Thr |