Revel Score:
ENST00000262367 (MANE Select)
0.752
ENST00000543883
0.752
ENST00000382070
0.752
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3757918T>C , CM000678.2:g.3757918T>C | GRCh38 |
| NC_000016.9:g.3807919T>C , CM000678.1:g.3807919T>C | GRCh37 |
| NC_000016.8:g.3747920T>C | NCBI36 |
| NG_009873.1:g.127203A>G | |
| NG_009873.2:g.127796A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.3500A>G MANE Select | ENSP00000262367.5:p.Tyr1167Cys | |
| ENST00000262367.9:c.3500A>G | ENSP00000262367.5:p.Tyr1167Cys | |
| ENST00000382070.7:c.3386A>G | ENSP00000371502.3:p.Tyr1129Cys | |
| ENST00000570939.2:c.2105A>G | ENSP00000461002.2:p.Tyr702Cys | |
| NM_001079846.1:c.3386A>G | NP_001073315.1:p.Tyr1129Cys | |
| NM_004380.2:c.3500A>G | NP_004371.2:p.Tyr1167Cys | |
| XM_005255124.3:c.3455A>G | XP_005255181.1:p.Tyr1152Cys | |
| XM_005255125.3:c.3083A>G | XP_005255182.1:p.Tyr1028Cys | |
| XM_006720848.2:c.3500A>G | XP_006720911.1:p.Tyr1167Cys | |
| XM_011522380.1:c.3446A>G | XP_011520682.1:p.Tyr1149Cys | |
| XM_011522381.1:c.2747A>G | XP_011520683.1:p.Tyr916Cys | |
| XM_011522382.1:c.3500A>G | XP_011520684.1:p.Tyr1167Cys | |
| XM_005255124.4:c.3455A>G | XP_005255181.1:p.Tyr1152Cys | |
| XM_005255125.4:c.3083A>G | XP_005255182.1:p.Tyr1028Cys | |
| XM_006720848.3:c.3500A>G | XP_006720911.1:p.Tyr1167Cys | |
| XM_011522381.2:c.2747A>G | XP_011520683.1:p.Tyr916Cys | |
| XM_011522382.3:c.3500A>G | XP_011520684.1:p.Tyr1167Cys | |
| XM_017022944.1:c.3494A>G | XP_016878433.1:p.Tyr1165Cys | |
| NM_004380.3:c.3500A>G MANE Select | NP_004371.2:p.Tyr1167Cys |