Revel Score:
ENST00000374552 (MANE Select)
0.833
ENST00000374553
0.833
ENST00000524573
0.833
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.70035500C>T , CM000685.2:g.70035500C>T | GRCh38 |
| NC_000023.10:g.69255350C>T , CM000685.1:g.69255350C>T | GRCh37 |
| NC_000023.9:g.69172075C>T | NCBI36 |
| NG_009809.1:g.424440C>T | |
| NG_009809.2:g.424434C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374552.9:c.1067C>T MANE Select | ENSP00000363680.4:p.Ala356Val | |
| ENST00000374552.8:c.1067C>T | ENSP00000363680.4:p.Ala356Val | |
| ENST00000374553.6:c.1061C>T | ENSP00000363681.2:p.Ala354Val | |
| ENST00000524573.5:c.1052C>T | ENSP00000432585.1:p.Ala351Val | |
| ENST00000616899.1:c.671C>T | ENSP00000481963.1:p.Ala224Val | |
| NM_001005609.1:c.1061C>T | NP_001005609.1:p.Ala354Val | |
| NM_001005612.2:c.1052C>T | NP_001005612.2:p.Ala351Val | |
| NM_001399.4:c.1067C>T | NP_001390.1:p.Ala356Val | |
| XM_006724630.2:c.1058C>T | XP_006724693.1:p.Ala353Val | |
| XM_017029336.1:c.1025C>T | XP_016884825.1:p.Ala342Val | |
| NM_001399.5:c.1067C>T MANE Select | NP_001390.1:p.Ala356Val | |
| NM_001005609.2:c.1061C>T | NP_001005609.1:p.Ala354Val | |
| NM_001005612.3:c.1052C>T | NP_001005612.2:p.Ala351Val |