Revel Score:
ENST00000370192 (MANE Select)
0.299
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.97699474T>A , CM000663.2:g.97699474T>A | GRCh38 |
| NC_000001.10:g.98165030T>A , CM000663.1:g.98165030T>A | GRCh37 |
| NC_000001.9:g.97937618T>A | NCBI36 |
| NG_008807.2:g.226586A>T , LRG_722:g.226586A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370192.8:c.557A>T MANE Select | ENSP00000359211.3:p.Tyr186Phe | |
| ENST00000370192.7:c.557A>T | ENSP00000359211.3:p.Tyr186Phe | |
| ENST00000474241.1:n.321A>T | ||
| NM_000110.3:c.557A>T , LRG_722t1:c.557A>T | NP_000101.2:p.Tyr186Phe | |
| XM_005270562.3:c.557A>T | XP_005270619.2:p.Tyr186Phe | |
| XM_006710397.2:c.557A>T | XP_006710460.1:p.Tyr186Phe | |
| XM_006710397.3:c.557A>T | XP_006710460.1:p.Tyr186Phe | |
| XM_017000507.1:c.446A>T | XP_016855996.1:p.Tyr149Phe | |
| XM_017000508.2:c.62A>T | XP_016855997.1:p.Tyr21Phe | |
| XM_017000509.2:c.62A>T | XP_016855998.1:p.Tyr21Phe | |
| XM_017000510.1:c.62A>T | XP_016855999.1:p.Tyr21Phe | |
| NM_000110.4:c.557A>T MANE Select | NP_000101.2:p.Tyr186Phe |