Revel Score:
ENST00000309988 (MANE Select)
0.182
ENST00000353004
0.182
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.95048061A>T , CM000664.2:g.95048061A>T | GRCh38 |
| NC_000002.11:g.95713806A>T , CM000664.1:g.95713806A>T | GRCh37 |
| NC_000002.10:g.95077533A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309988.9:c.196A>T MANE Select | ENSP00000310880.4:p.Thr66Ser | |
| ENST00000309988.8:c.196A>T | ENSP00000310880.4:p.Thr66Ser | |
| ENST00000349807.3:c.94-5320A>T | ENSP00000322860.3:n.94-5320A>T | |
| ENST00000353004.7:c.196A>T | ENSP00000306568.4:p.Thr66Ser | |
| ENST00000354078.7:c.94-1520A>T | ENSP00000304924.3:n.94-1520A>T | |
| NM_002371.3:c.196A>T | NP_002362.1:p.Thr66Ser | |
| NM_022438.2:c.196A>T | NP_071883.1:p.Thr66Ser | |
| NM_022439.2:c.94-1520A>T | NP_071884.1:n.94-1520A>T | |
| NM_022440.2:c.94-5320A>T | NP_071885.1:n.94-5320A>T | |
| NM_002371.4:c.196A>T MANE Select | NP_002362.1:p.Thr66Ser | |
| NM_022438.3:c.196A>T | NP_071883.1:p.Thr66Ser | |
| NM_022439.3:c.94-1520A>T | NP_071884.1:n.94-1520A>T | |
| NM_022440.3:c.94-5320A>T | NP_071885.1:n.94-5320A>T |