Revel Score:
ENST00000446899
0.239
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.13005967T>A , CM000679.2:g.13005967T>A | GRCh38 |
| NC_000017.10:g.12909284T>A , CM000679.1:g.12909284T>A | GRCh37 |
| NC_000017.9:g.12850009T>A | NCBI36 |
| NG_015808.1:g.17098A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338034.9:c.751A>T MANE Select | ENSP00000337445.4:p.Arg251Ter | |
| ENST00000338034.8:c.751A>T | ENSP00000337445.4:p.Arg251Ter | |
| ENST00000395962.6:c.694A>T | ENSP00000379291.1:p.Arg232Ter | |
| ENST00000426905.7:c.631A>T | ENSP00000405223.3:p.Arg211Ter | |
| ENST00000446899.5:c.80A>T | ||
| ENST00000480891.5:n.580A>T | ||
| ENST00000484122.5:n.1013A>T | ||
| ENST00000580504.5:c.344A>T | ENSP00000463594.1:p.Glu115Val | |
| ENST00000584650.5:c.225A>T | ||
| ENST00000609101.5:c.469A>T | ENSP00000477044.1:p.Arg157Ter | |
| ENST00000609345.1:n.548A>T | ||
| NM_001165962.1:c.631A>T | NP_001159434.1:p.Arg211Ter | |
| NM_018127.6:c.751A>T | NP_060597.4:p.Arg251Ter | |
| NM_173717.1:c.751A>T | NP_776065.1:p.Arg251Ter | |
| XM_024450850.1:c.751A>T | XP_024306618.1:p.Arg251Ter | |
| XM_024450851.1:c.751A>T | XP_024306619.1:p.Arg251Ter | |
| XM_024450852.1:c.751A>T | XP_024306620.1:p.Arg251Ter | |
| XM_024450853.1:c.751A>T | XP_024306621.1:p.Arg251Ter | |
| XM_024450854.1:c.631A>T | XP_024306622.1:p.Arg211Ter | |
| XM_024450855.1:c.631A>T | XP_024306623.1:p.Arg211Ter | |
| XM_024450856.1:c.469A>T | XP_024306624.1:p.Arg157Ter | |
| XM_024450857.1:c.469A>T | XP_024306625.1:p.Arg157Ter | |
| XM_024450858.1:c.469A>T | XP_024306626.1:p.Arg157Ter | |
| XM_024450859.1:c.469A>T | XP_024306627.1:p.Arg157Ter | |
| XM_024450860.1:c.469A>T | XP_024306628.1:p.Arg157Ter | |
| XM_024450861.1:c.469A>T | XP_024306629.1:p.Arg157Ter | |
| XM_024450862.1:c.469A>T | XP_024306630.1:p.Arg157Ter | |
| NM_018127.7:c.751A>T MANE Select | NP_060597.4:p.Arg251Ter | |
| NM_001165962.2:c.631A>T | NP_001159434.1:p.Arg211Ter | |
| NM_173717.2:c.751A>T | NP_776065.1:p.Arg251Ter |