Revel Score:
ENST00000261304 (MANE Select)
0.835
ENST00000544807
0.835
ENST00000393569
0.835
ENST00000539620
0.835
ENST00000393568
0.835
ENST00000445021
0.835
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.87968381A>G , CM000676.2:g.87968381A>G | GRCh38 |
| NC_000014.8:g.88434725A>G , CM000676.1:g.88434725A>G | GRCh37 |
| NC_000014.7:g.87504478A>G | NCBI36 |
| NG_011853.2:g.30183T>C | |
| NG_011853.3:g.30183T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261304.7:c.862T>C MANE Select | ENSP00000261304.2:p.Trp288Arg | |
| ENST00000261304.6:c.862T>C | ENSP00000261304.2:p.Trp288Arg | |
| ENST00000393568.8:c.793T>C | ENSP00000377198.4:p.Trp265Arg | |
| ENST00000393569.6:c.784T>C | ENSP00000377199.2:p.Trp262Arg | |
| ENST00000474294.6:n.852T>C | ||
| ENST00000544807.6:c.694T>C | ENSP00000437513.2:p.Trp232Arg | |
| ENST00000555000.5:c.229T>C | ENSP00000450472.1:p.Trp77Arg | |
| ENST00000557316.5:c.*260T>C | ENSP00000452314.1:n.*260T>C | |
| ENST00000622264.4:c.852T>C | ||
| NM_000153.3:c.862T>C | NP_000144.2:p.Trp288Arg | |
| NM_001201401.1:c.793T>C | NP_001188330.1:p.Trp265Arg | |
| NM_001201402.1:c.784T>C | NP_001188331.1:p.Trp262Arg | |
| XM_011536618.1:c.694T>C | XP_011534920.1:p.Trp232Arg | |
| XM_011536618.2:c.694T>C | XP_011534920.1:p.Trp232Arg | |
| NM_000153.4:c.862T>C MANE Select | NP_000144.2:p.Trp288Arg | |
| NM_001201401.2:c.793T>C | NP_001188330.1:p.Trp265Arg | |
| NM_001201402.2:c.784T>C | NP_001188331.1:p.Trp262Arg |