Revel Score:
ENST00000155840 (MANE Select)
0.974
ENST00000335475
0.974
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2583477A>G , CM000673.2:g.2583477A>G | GRCh38 |
| NC_000011.9:g.2604707A>G , CM000673.1:g.2604707A>G | GRCh37 |
| NC_000011.8:g.2561283A>G | NCBI36 |
| NG_008935.1:g.143487A>G , LRG_287:g.143487A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.703A>G | ENSP00000434560.2:p.Thr235Ala | |
| ENST00000646564.2:c.520A>G | ENSP00000495806.2:p.Thr174Ala | |
| ENST00000155840.12:c.964A>G MANE Select | ENSP00000155840.2:p.Thr322Ala | |
| ENST00000335475.6:c.583A>G | ENSP00000334497.5:p.Thr195Ala | |
| ENST00000646564.1:c.166A>G | ENSP00000495806.1:p.Thr56Ala | |
| ENST00000155840.9:c.964A>G | ENSP00000155840.2:p.Thr322Ala | |
| ENST00000335475.5:c.583A>G | ENSP00000334497.5:p.Thr195Ala | |
| NM_000218.2:c.964A>G , LRG_287t1:c.964A>G | NP_000209.2:p.Thr322Ala | |
| NM_181798.1:c.583A>G , LRG_287t2:c.583A>G | NP_861463.1:p.Thr195Ala | |
| NM_000218.3:c.964A>G MANE Select | NP_000209.2:p.Thr322Ala |