Revel Score:
ENST00000508941
0.628
ENST00000515665
0.628
ENST00000303115 (MANE Select)
0.628
ENST00000343305
0.628
ENST00000506850
0.628
ENST00000511982
0.628
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.35860904G>T , CM000667.2:g.35860904G>T | GRCh38 |
| NC_000005.9:g.35861006G>T , CM000667.1:g.35861006G>T | GRCh37 |
| NC_000005.8:g.35896763G>T | NCBI36 |
| NG_009567.1:g.9016G>T , LRG_74:g.9016G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303115.8:c.135G>T MANE Select | ENSP00000306157.3:p.Gln45His | |
| ENST00000303115.7:c.135G>T | ENSP00000306157.3:p.Gln45His | |
| ENST00000506850.5:c.135G>T | ENSP00000421207.1:p.Gln45His | |
| ENST00000508941.5:c.135G>T | ENSP00000426426.1:p.Gln45His | |
| ENST00000511031.1:n.269G>T | ||
| ENST00000511982.1:c.135G>T | ENSP00000425309.1:p.Gln45His | |
| ENST00000514217.5:c.135G>T | ENSP00000427688.1:p.Gln45His | |
| ENST00000515665.1:c.135G>T | ENSP00000425538.1:p.Gln45His | |
| NM_002185.3:c.135G>T | NP_002176.2:p.Gln45His | |
| NR_120485.1:n.238G>T | ||
| XM_005248299.2:c.135G>T | XP_005248356.1:p.Gln45His | |
| XM_005248300.1:c.135G>T | XP_005248357.1:p.Gln45His | |
| XM_011514037.1:c.135G>T | XP_011512339.1:p.Gln45His | |
| NM_002185.4:c.135G>T | NP_002176.2:p.Gln45His | |
| NR_120485.2:n.264G>T | ||
| XM_005248299.4:c.135G>T | XP_005248356.1:p.Gln45His | |
| NM_002185.5:c.135G>T MANE Select | NP_002176.2:p.Gln45His | |
| NR_120485.3:n.222G>T |