Revel Score:
ENST00000441560
0.407
ENST00000358385 (MANE Select)
0.407
ENST00000357032
0.407
ENST00000354525
0.407
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50628133A>T , CM000676.2:g.50628133A>T | GRCh38 |
| NC_000014.8:g.51094851A>T , CM000676.1:g.51094851A>T | GRCh37 |
| NC_000014.7:g.50164601A>T | NCBI36 |
| NG_009028.1:g.100052A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553509.2:c.1222A>T | ENSP00000450989.2:p.Met408Leu | |
| ENST00000556478.3:c.1222A>T | ENSP00000501428.2:p.Met408Leu | |
| ENST00000682037.1:c.1222A>T | ENSP00000508289.1:p.Met408Leu | |
| ENST00000682219.1:n.2560A>T | ||
| ENST00000683037.1:n.1143A>T | ||
| ENST00000683330.1:n.1556A>T | ||
| ENST00000358385.12:c.1222A>T MANE Select | ENSP00000351155.7:p.Met408Leu | |
| ENST00000674288.1:c.*2514A>T | ENSP00000501522.1:n.*2514A>T | |
| ENST00000358385.10:c.1222A>T | ENSP00000351155.6:p.Met408Leu | |
| ENST00000441560.6:c.1222A>T | ENSP00000413675.2:p.Met408Leu | |
| ENST00000555266.1:c.365A>T | ENSP00000450897.1:n.365A>T | |
| NM_001127713.1:c.1222A>T | NP_001121185.1:p.Met408Leu | |
| NM_015915.4:c.1222A>T | NP_056999.2:p.Met408Leu | |
| NM_181598.3:c.1222A>T | NP_853629.2:p.Met408Leu | |
| NM_015915.5:c.1222A>T MANE Select | NP_056999.2:p.Met408Leu | |
| NM_181598.4:c.1222A>T | NP_853629.2:p.Met408Leu |