Revel Score:
ENST00000553106 (MANE Select)
0.964
ENST00000307000
0.964
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102852816G>T , CM000674.2:g.102852816G>T | GRCh38 |
| NC_000012.11:g.103246594G>T , CM000674.1:g.103246594G>T | GRCh37 |
| NC_000012.10:g.101770724G>T | NCBI36 |
| NG_008690.1:g.69787C>A | |
| NG_008690.2:g.110595C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.841C>A MANE Select | ENSP00000448059.1:p.Pro281Thr | |
| ENST00000307000.7:c.826C>A | ENSP00000303500.2:p.Pro276Thr | |
| ENST00000549247.6:n.600C>A | ||
| ENST00000553106.5:c.841C>A | ENSP00000448059.1:p.Pro281Thr | |
| ENST00000635477.1:c.2C>A | ||
| NM_000277.1:c.841C>A | NP_000268.1:p.Pro281Thr | |
| XM_011538422.1:c.841C>A | XP_011536724.1:p.Pro281Thr | |
| NM_000277.2:c.841C>A | NP_000268.1:p.Pro281Thr | |
| NM_001354304.1:c.841C>A | NP_001341233.1:p.Pro281Thr | |
| NM_000277.3:c.841C>A MANE Select | NP_000268.1:p.Pro281Thr | |
| NM_001354304.2:c.841C>A | NP_001341233.1:p.Pro281Thr |