Revel Score:
ENST00000262367 (MANE Select)
0.850
ENST00000543883
0.850
ENST00000382070
0.850
ENST00000323508
0.850
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3729810C>A , CM000678.2:g.3729810C>A | GRCh38 |
| NC_000016.9:g.3779811C>A , CM000678.1:g.3779811C>A | GRCh37 |
| NC_000016.8:g.3719812C>A | NCBI36 |
| NG_009873.1:g.155311G>T | |
| NG_009873.2:g.155904G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.5237G>T MANE Select | ENSP00000262367.5:p.Gly1746Val | |
| ENST00000262367.9:c.5237G>T | ENSP00000262367.5:p.Gly1746Val | |
| ENST00000382070.7:c.5123G>T | ENSP00000371502.3:p.Gly1708Val | |
| NM_001079846.1:c.5123G>T | NP_001073315.1:p.Gly1708Val | |
| NM_004380.2:c.5237G>T | NP_004371.2:p.Gly1746Val | |
| XM_005255124.3:c.5192G>T | XP_005255181.1:p.Gly1731Val | |
| XM_005255125.3:c.4820G>T | XP_005255182.1:p.Gly1607Val | |
| XM_006720848.2:c.4976G>T | XP_006720911.1:p.Gly1659Val | |
| XM_011522380.1:c.5183G>T | XP_011520682.1:p.Gly1728Val | |
| XM_011522381.1:c.4484G>T | XP_011520683.1:p.Gly1495Val | |
| XM_005255124.4:c.5192G>T | XP_005255181.1:p.Gly1731Val | |
| XM_005255125.4:c.4820G>T | XP_005255182.1:p.Gly1607Val | |
| XM_006720848.3:c.4976G>T | XP_006720911.1:p.Gly1659Val | |
| XM_011522381.2:c.4484G>T | XP_011520683.1:p.Gly1495Val | |
| XM_017022944.1:c.5231G>T | XP_016878433.1:p.Gly1744Val | |
| NM_004380.3:c.5237G>T MANE Select | NP_004371.2:p.Gly1746Val |