Revel Score:
ENST00000507827
0.722
ENST00000336356 (MANE Select)
0.722
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.154744851T>G , CM000666.2:g.154744851T>G | GRCh38 |
| NC_000004.11:g.155666003T>G , CM000666.1:g.155666003T>G | GRCh37 |
| NC_000004.10:g.155885453T>G | NCBI36 |
| NG_009110.1:g.5841T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336356.4:c.525T>G MANE Select | ENSP00000337224.3:p.Ser175Arg | |
| ENST00000336356.3:c.525T>G | ENSP00000337224.3:p.Ser175Arg | |
| ENST00000499392.1:n.472-3338T>G | ||
| ENST00000507827.5:c.525T>G | ENSP00000426761.1:p.Ser175Arg | |
| ENST00000510733.1:n.852T>G | ||
| NM_001301645.1:c.525T>G | NP_001288574.1:p.Ser175Arg | |
| NM_004744.4:c.525T>G | NP_004735.2:p.Ser175Arg | |
| XM_006714412.2:c.525T>G | XP_006714475.1:p.Ser175Arg | |
| XR_938793.1:n.861T>G | ||
| XR_938793.2:n.857T>G | ||
| NM_004744.5:c.525T>G MANE Select | NP_004735.2:p.Ser175Arg | |
| NM_001301645.2:c.525T>G | NP_001288574.1:p.Ser175Arg |