Revel Score:
ENST00000441560
0.599
ENST00000358385 (MANE Select)
0.599
ENST00000357032
0.599
ENST00000354525
0.599
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50628136G>T , CM000676.2:g.50628136G>T | GRCh38 |
| NC_000014.8:g.51094854G>T , CM000676.1:g.51094854G>T | GRCh37 |
| NC_000014.7:g.50164604G>T | NCBI36 |
| NG_009028.1:g.100055G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553509.2:c.1225G>T | ENSP00000450989.2:p.Gly409Cys | |
| ENST00000556478.3:c.1225G>T | ENSP00000501428.2:p.Gly409Cys | |
| ENST00000682037.1:c.1225G>T | ENSP00000508289.1:p.Gly409Cys | |
| ENST00000682219.1:n.2563G>T | ||
| ENST00000683037.1:n.1146G>T | ||
| ENST00000683330.1:n.1559G>T | ||
| ENST00000358385.12:c.1225G>T MANE Select | ENSP00000351155.7:p.Gly409Cys | |
| ENST00000674288.1:c.*2517G>T | ENSP00000501522.1:n.*2517G>T | |
| ENST00000358385.10:c.1225G>T | ENSP00000351155.6:p.Gly409Cys | |
| ENST00000441560.6:c.1225G>T | ENSP00000413675.2:p.Gly409Cys | |
| ENST00000555266.1:c.368G>T | ENSP00000450897.1:n.368G>T | |
| NM_001127713.1:c.1225G>T | NP_001121185.1:p.Gly409Cys | |
| NM_015915.4:c.1225G>T | NP_056999.2:p.Gly409Cys | |
| NM_181598.3:c.1225G>T | NP_853629.2:p.Gly409Cys | |
| NM_015915.5:c.1225G>T MANE Select | NP_056999.2:p.Gly409Cys | |
| NM_181598.4:c.1225G>T | NP_853629.2:p.Gly409Cys |