Revel Score:
ENST00000257555 (MANE Select)
0.611
ENST00000535125
0.611
ENST00000537424
0.611
ENST00000543027
0.611
ENST00000541395
0.611
ENST00000544413
0.611
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120999604A>T , CM000674.2:g.120999604A>T | GRCh38 |
| NC_000012.11:g.121437407A>T , CM000674.1:g.121437407A>T | GRCh37 |
| NC_000012.10:g.119921790A>T | NCBI36 |
| NG_011731.2:g.25859A>T , LRG_522:g.25859A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560968.6:c.*492A>T | ENSP00000453965.2:n.*492A>T | |
| ENST00000257555.11:c.1745A>T MANE Select | ENSP00000257555.5:p.His582Leu | |
| ENST00000257555.10:c.1745A>T | ENSP00000257555.4:p.His582Leu | |
| ENST00000540108.1:c.*1185A>T | ENSP00000445445.1:n.*1185A>T | |
| ENST00000541395.5:c.1838A>T | ENSP00000443112.1:p.His613Leu | |
| ENST00000543427.5:c.1208A>T | ENSP00000439721.2:p.His403Leu | |
| ENST00000544413.2:c.1766A>T | ENSP00000438804.1:p.His589Leu | |
| ENST00000560968.5:c.1562A>T | ||
| ENST00000615446.4:c.533A>T | ENSP00000483994.1:p.His178Leu | |
| ENST00000617366.4:c.*154A>T | ENSP00000481967.1:n.*154A>T | |
| NM_000545.5:c.1745A>T , LRG_522t1:c.1745A>T | NP_000536.5:p.His582Leu | |
| NM_000545.6:c.1745A>T | NP_000536.5:p.His582Leu | |
| NM_001306179.1:c.1766A>T | NP_001293108.1:p.His589Leu | |
| XM_005253931.2:c.1838A>T | XP_005253988.1:p.His613Leu | |
| XM_024449168.1:c.1838A>T | XP_024304936.1:p.His613Leu | |
| NM_000545.8:c.1745A>T MANE Select | NP_000536.6:p.His582Leu | |
| NM_001306179.2:c.1766A>T | NP_001293108.2:p.His589Leu |