Revel Score:
ENST00000375244
0.754
ENST00000451343
0.754
ENST00000375247
0.754
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32042353G>A , CM000668.2:g.32042353G>A | GRCh38 |
| NC_000006.11:g.32010130G>A , CM000668.1:g.32010130G>A | GRCh37 |
| NC_000006.10:g.32118109G>A | NCBI36 |
| NG_007941.2:g.9046G>A | |
| NG_008337.2:g.72022C>T | |
| NG_007941.3:g.9049G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644971.2:c.12220C>T MANE Select | ENSP00000496448.1:p.Arg4074Cys | |
| ENST00000647633.1:c.12961C>T | ENSP00000497649.1:p.Arg4321Cys | |
| ENST00000375244.7:c.12220C>T | ENSP00000364393.3:p.Arg4074Cys | |
| ENST00000451343.4:c.1507C>T | ENSP00000407685.1:p.Arg503Cys | |
| ENST00000490077.5:n.2047C>T | ||
| ENST00000498094.1:n.705C>T | ||
| ENST00000611016.2:c.5374C>T | ENSP00000483409.1:p.Arg1792Cys | |
| NM_019105.6:c.12214C>T | NP_061978.6:p.Arg4072Cys | |
| NM_032470.3:c.1507C>T | NP_115859.2:p.Arg503Cys | |
| NM_001365276.1:c.12220C>T | NP_001352205.1:p.Arg4074Cys | |
| NM_019105.7:c.12214C>T | NP_061978.6:p.Arg4072Cys | |
| NM_001365276.2:c.12220C>T MANE Select | NP_001352205.1:p.Arg4074Cys | |
| NM_019105.8:c.12214C>T | NP_061978.6:p.Arg4072Cys | |
| NM_032470.4:c.1507C>T | NP_115859.2:p.Arg503Cys |