Revel Score:
ENST00000340482
0.758
ENST00000225275 (MANE Select)
0.758
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58272825A>C , CM000679.2:g.58272825A>C | GRCh38 |
| NC_000017.10:g.56350186A>C , CM000679.1:g.56350186A>C | GRCh37 |
| NC_000017.9:g.53705185A>C | NCBI36 |
| NG_009629.1:g.13111T>G , LRG_84:g.13111T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000578493.2:n.1048T>G | ||
| ENST00000699291.1:c.840T>G | ENSP00000514272.1:n.840T>G | |
| ENST00000699292.1:n.1250T>G | ||
| ENST00000225275.4:c.1715T>G MANE Select | ENSP00000225275.3:p.Leu572Trp | |
| ENST00000225275.3:c.1715T>G | ENSP00000225275.3:p.Leu572Trp | |
| ENST00000577220.1:c.173T>G | ENSP00000464668.1:p.Leu58Trp | |
| NM_000250.1:c.1715T>G , LRG_84t1:c.1715T>G | NP_000241.1:p.Leu572Trp | |
| XM_011524821.1:c.1901T>G | XP_011523123.1:p.Leu634Trp | |
| XM_011524822.1:c.1430T>G | XP_011523124.1:p.Leu477Trp | |
| NM_000250.2:c.1715T>G MANE Select | NP_000241.1:p.Leu572Trp |