Revel Score:
ENST00000233242 (MANE Select)
0.020
ENST00000535079
0.020
ENST00000399256
0.020
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21041029T>A , CM000664.2:g.21041029T>A | GRCh38 |
| NC_000002.11:g.21263901T>A , CM000664.1:g.21263901T>A | GRCh37 |
| NC_000002.10:g.21117406T>A | NCBI36 |
| NG_011793.1:g.8045A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673739.2:c.292A>T | ENSP00000501110.2:p.Thr98Ser | |
| ENST00000673882.2:c.292A>T | ENSP00000501253.2:p.Thr98Ser | |
| ENST00000673739.1:c.160A>T | ENSP00000501110.1:p.Thr54Ser | |
| ENST00000673882.1:c.160A>T | ENSP00000501253.1:p.Thr54Ser | |
| ENST00000233242.5:c.292A>T MANE Select | ENSP00000233242.1:p.Thr98Ser | |
| ENST00000399256.4:c.292A>T | ENSP00000382200.4:p.Thr98Ser | |
| ENST00000616098.4:c.292A>T | ENSP00000477990.1:p.Thr98Ser | |
| NM_000384.2:c.292A>T | NP_000375.2:p.Thr98Ser | |
| XM_011532809.1:c.292A>T | XP_011531111.1:p.Thr98Ser | |
| NM_000384.3:c.292A>T MANE Select | NP_000375.3:p.Thr98Ser |