Revel Score:
ENST00000540367
0.793
ENST00000376618
0.793
ENST00000265641 (MANE Select)
0.793
ENST00000538308
0.793
ENST00000539743
0.793
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68794879C>A , CM000673.2:g.68794879C>A | GRCh38 |
| NC_000011.9:g.68562347C>A , CM000673.1:g.68562347C>A | GRCh37 |
| NC_000011.8:g.68318923C>A | NCBI36 |
| NG_011801.1:g.52053G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265641.10:c.804G>T MANE Select | ENSP00000265641.4:p.Gln268His | |
| ENST00000265641.9:c.804G>T | ENSP00000265641.4:p.Gln268His | |
| ENST00000376618.6:c.804G>T | ENSP00000365803.2:p.Gln268His | |
| ENST00000538994.1:c.60G>T | ENSP00000454332.1:p.Gln20His | |
| ENST00000539743.5:c.804G>T | ENSP00000446108.1:p.Gln268His | |
| ENST00000540367.5:c.804G>T | ENSP00000439084.1:p.Gln268His | |
| NM_001031847.2:c.804G>T | NP_001027017.1:p.Gln268His | |
| NM_001876.3:c.804G>T | NP_001867.2:p.Gln268His | |
| XM_005273762.1:c.900G>T | XP_005273819.1:p.Gln300His | |
| XM_005273763.1:c.900G>T | XP_005273820.1:p.Gln300His | |
| XM_005273762.3:c.900G>T | XP_005273819.1:p.Gln300His | |
| XM_017017220.1:c.804G>T | XP_016872709.1:p.Gln268His | |
| NM_001876.4:c.804G>T MANE Select | NP_001867.2:p.Gln268His | |
| NM_001031847.3:c.804G>T | NP_001027017.1:p.Gln268His |