Revel Score:
ENST00000373253
0.207
ENST00000356090
0.207
ENST00000373243 (MANE Select)
0.207
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.35561154A>T , CM000663.2:g.35561154A>T | GRCh38 |
| NC_000001.10:g.36026755A>T , CM000663.1:g.36026755A>T | GRCh37 |
| NC_000001.9:g.35799342A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373243.7:c.1003A>T MANE Select | ENSP00000362340.2:p.Thr335Ser | |
| ENST00000356090.8:c.1003A>T | ENSP00000348394.4:p.Thr335Ser | |
| ENST00000373243.6:c.1003A>T | ENSP00000362340.2:p.Thr335Ser | |
| ENST00000373253.7:c.952A>T | ENSP00000362350.3:p.Thr318Ser | |
| NM_001014839.1:c.1003A>T | NP_001014839.1:p.Thr335Ser | |
| NM_001014841.1:c.952A>T | NP_001014841.1:p.Thr318Ser | |
| NM_014284.2:c.1003A>T | NP_055099.1:p.Thr335Ser | |
| NM_014284.3:c.1003A>T MANE Select | NP_055099.1:p.Thr335Ser | |
| NM_001014839.2:c.1003A>T | NP_001014839.1:p.Thr335Ser | |
| NM_001014841.2:c.952A>T | NP_001014841.1:p.Thr318Ser |