Revel Score:
ENST00000396044
0.673
ENST00000544984
0.917
ENST00000374690 (MANE Select)
0.917
ENST00000396043
0.917
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.67723701C>T , CM000685.2:g.67723701C>T | GRCh38 |
| NC_000023.10:g.66943543C>T , CM000685.1:g.66943543C>T | GRCh37 |
| NC_000023.9:g.66860268C>T | NCBI36 |
| NG_009014.2:g.184670C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396043.4:c.*971C>T | ENSP00000379358.4:n.*971C>T | |
| ENST00000374690.9:c.2623C>T MANE Select | ENSP00000363822.3:p.His875Tyr | |
| ENST00000396043.3:c.1250C>T | ENSP00000379358.3:n.1250C>T | |
| ENST00000396044.8:c.2189C>T | ENSP00000379359.3:p.Ala730Val | |
| ENST00000612452.5:c.2623C>T | ENSP00000484033.2:p.His875Tyr | |
| ENST00000374690.7:c.2623C>T | ENSP00000363822.3:p.His875Tyr | |
| ENST00000396043.2:c.1027C>T | ENSP00000379358.2:p.His343Tyr | |
| ENST00000396044.7:c.2189C>T | ENSP00000379359.3:p.Ala730Val | |
| ENST00000612452.4:c.2074C>T | ENSP00000484033.1:p.His692Tyr | |
| NM_000044.3:c.2623C>T | NP_000035.2:p.His875Tyr | |
| NM_001011645.2:c.1027C>T | NP_001011645.1:p.His343Tyr | |
| NM_000044.4:c.2623C>T | NP_000035.2:p.His875Tyr | |
| NM_001011645.3:c.1027C>T | NP_001011645.1:p.His343Tyr | |
| NM_000044.6:c.2623C>T MANE Select | NP_000035.2:p.His875Tyr |