Revel Score:
ENST00000374552 (MANE Select)
0.951
ENST00000374553
0.951
ENST00000524573
0.951
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.70033426G>C , CM000685.2:g.70033426G>C | GRCh38 |
| NC_000023.10:g.69253276G>C , CM000685.1:g.69253276G>C | GRCh37 |
| NC_000023.9:g.69170001G>C | NCBI36 |
| NG_009809.1:g.422366G>C | |
| NG_009809.2:g.422360G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374552.9:c.822G>C MANE Select | ENSP00000363680.4:p.Trp274Cys | |
| ENST00000374552.8:c.822G>C | ENSP00000363680.4:p.Trp274Cys | |
| ENST00000374553.6:c.822G>C | ENSP00000363681.2:p.Trp274Cys | |
| ENST00000524573.5:c.813G>C | ENSP00000432585.1:p.Trp271Cys | |
| ENST00000616899.1:c.426G>C | ENSP00000481963.1:p.Trp142Cys | |
| NM_001005609.1:c.822G>C | NP_001005609.1:p.Trp274Cys | |
| NM_001005612.2:c.813G>C | NP_001005612.2:p.Trp271Cys | |
| NM_001399.4:c.822G>C | NP_001390.1:p.Trp274Cys | |
| XM_006724630.2:c.813G>C | XP_006724693.1:p.Trp271Cys | |
| XM_011530885.1:c.822G>C | XP_011529187.1:p.Trp274Cys | |
| XM_011530885.2:c.822G>C | XP_011529187.1:p.Trp274Cys | |
| XM_017029336.1:c.822G>C | XP_016884825.1:p.Trp274Cys | |
| NM_001399.5:c.822G>C MANE Select | NP_001390.1:p.Trp274Cys | |
| NM_001005609.2:c.822G>C | NP_001005609.1:p.Trp274Cys | |
| NM_001005612.3:c.813G>C | NP_001005612.2:p.Trp271Cys |