Revel Score:
ENST00000399002 (MANE Select)
0.497
ENST00000378194
0.497
ENST00000450297
0.497
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.13072400T>A , CM000682.2:g.13072400T>A | GRCh38 |
| NC_000020.10:g.13053048T>A , CM000682.1:g.13053048T>A | GRCh37 |
| NC_000020.9:g.13001048T>A | NCBI36 |
| NG_053155.1:g.68422T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399002.7:c.448T>A MANE Select | ENSP00000381968.2:p.Trp150Arg | |
| ENST00000399002.6:c.448T>A | ENSP00000381968.2:p.Trp150Arg | |
| ENST00000450297.1:c.367T>A | ENSP00000409125.1:p.Trp123Arg | |
| NM_018327.2:c.448T>A | NP_060797.2:p.Trp150Arg | |
| XM_011529278.1:c.448T>A | XP_011527580.1:p.Trp150Arg | |
| XM_011529279.1:c.448T>A | XP_011527581.1:p.Trp150Arg | |
| NM_001349945.1:c.448T>A | NP_001336874.1:p.Trp150Arg | |
| NM_018327.3:c.448T>A | NP_060797.2:p.Trp150Arg | |
| XM_017027922.1:c.448T>A | XP_016883411.1:p.Trp150Arg | |
| XR_001754317.1:n.505T>A | ||
| NM_018327.4:c.448T>A MANE Select | NP_060797.2:p.Trp150Arg | |
| NM_001349945.2:c.448T>A | NP_001336874.1:p.Trp150Arg |