Revel Score:
ENST00000248553 (MANE Select)
0.295
ENST00000432276
0.295
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.76304006A>T , CM000669.2:g.76304006A>T | GRCh38 |
| NC_000007.13:g.75933323A>T , CM000669.1:g.75933323A>T | GRCh37 |
| NC_000007.12:g.75771259A>T | NCBI36 |
| NG_008995.1:g.6449A>T , LRG_248:g.6449A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248553.7:c.451A>T MANE Select | ENSP00000248553.6:p.Thr151Ser | |
| ENST00000674547.1:c.*42A>T | ENSP00000502461.1:n.*42A>T | |
| ENST00000674638.1:c.446A>T | ENSP00000502651.1:p.His149Leu | |
| ENST00000674650.1:c.387A>T | ENSP00000501628.1:p.Pro129= | |
| ENST00000674965.1:c.*107A>T | ENSP00000501765.1:n.*107A>T | |
| ENST00000675134.1:c.430A>T | ENSP00000501831.1:p.Thr144Ser | |
| ENST00000675226.1:c.450A>T | ENSP00000502510.1:p.Pro150= | |
| ENST00000675417.1:n.802A>T | ||
| ENST00000675538.1:c.486A>T | ENSP00000502495.1:p.Pro162= | |
| ENST00000675906.1:c.*36A>T | ENSP00000502714.1:n.*36A>T | |
| ENST00000676231.1:c.481A>T | ENSP00000502249.1:p.Thr161Ser | |
| ENST00000248553.6:c.451A>T | ENSP00000248553.6:p.Thr151Ser | |
| ENST00000429938.1:c.-54A>T | ENSP00000405285.1:n.-54A>T | |
| ENST00000447574.1:c.*615A>T | ENSP00000414357.1:n.*615A>T | |
| NM_001540.3:c.451A>T , LRG_248t1:c.451A>T | NP_001531.1:p.Thr151Ser | |
| NM_001540.4:c.451A>T | NP_001531.1:p.Thr151Ser | |
| NM_001540.5:c.451A>T MANE Select | NP_001531.1:p.Thr151Ser |