Revel Score:
ENST00000370192 (MANE Select)
0.823
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.97691777G>T , CM000663.2:g.97691777G>T | GRCh38 |
| NC_000001.10:g.98157333G>T , CM000663.1:g.98157333G>T | GRCh37 |
| NC_000001.9:g.97929921G>T | NCBI36 |
| NG_008807.2:g.234283C>A , LRG_722:g.234283C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370192.8:c.702C>A MANE Select | ENSP00000359211.3:p.Phe234Leu | |
| ENST00000370192.7:c.702C>A | ENSP00000359211.3:p.Phe234Leu | |
| ENST00000474241.1:n.466C>A | ||
| NM_000110.3:c.702C>A , LRG_722t1:c.702C>A | NP_000101.2:p.Phe234Leu | |
| XM_005270562.3:c.702C>A | XP_005270619.2:p.Phe234Leu | |
| XM_006710397.2:c.702C>A | XP_006710460.1:p.Phe234Leu | |
| XM_006710397.3:c.702C>A | XP_006710460.1:p.Phe234Leu | |
| XM_017000507.1:c.591C>A | XP_016855996.1:p.Phe197Leu | |
| XM_017000508.2:c.207C>A | XP_016855997.1:p.Phe69Leu | |
| XM_017000509.2:c.207C>A | XP_016855998.1:p.Phe69Leu | |
| XM_017000510.1:c.207C>A | XP_016855999.1:p.Phe69Leu | |
| NM_000110.4:c.702C>A MANE Select | NP_000101.2:p.Phe234Leu |