Revel Score:
ENST00000373208
0.066
ENST00000373207 (MANE Select)
0.066
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.70758253A>T , CM000672.2:g.70758253A>T | GRCh38 |
| NC_000010.10:g.72518009A>T , CM000672.1:g.72518009A>T | GRCh37 |
| NC_000010.9:g.72188015A>T | NCBI36 |
| NG_042147.1:g.90451A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373207.2:c.3146A>T MANE Select | ENSP00000362303.1:p.Glu1049Val | |
| ENST00000373207.1:c.3146A>T | ENSP00000362303.1:p.Glu1049Val | |
| ENST00000373208.5:c.3155A>T | ENSP00000362304.1:p.Glu1052Val | |
| NM_080722.3:c.3146A>T | NP_542453.2:p.Glu1049Val | |
| NM_139155.2:c.3155A>T | NP_631894.2:p.Glu1052Val | |
| XM_011539300.1:c.2645A>T | XP_011537602.1:p.Glu882Val | |
| XM_011539301.1:c.2219A>T | XP_011537603.1:p.Glu740Val | |
| XM_011539302.1:c.2219A>T | XP_011537604.1:p.Glu740Val | |
| XM_011539309.1:c.1715A>T | XP_011537611.1:p.Glu572Val | |
| NM_080722.4:c.3146A>T MANE Select | NP_542453.2:p.Glu1049Val | |
| NM_139155.3:c.3155A>T | NP_631894.2:p.Glu1052Val | |
| XM_011539300.2:c.2645A>T | XP_011537602.1:p.Glu882Val | |
| XM_011539301.2:c.2219A>T | XP_011537603.1:p.Glu740Val | |
| XM_011539302.2:c.2219A>T | XP_011537604.1:p.Glu740Val |