Revel Score:
ENST00000360403 (MANE Select)
0.612
ENST00000372183
0.612
ENST00000439363
0.346
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.44875648A>C , CM000663.2:g.44875648A>C | GRCh38 |
| NC_000001.10:g.45341320A>C , CM000663.1:g.45341320A>C | GRCh37 |
| NC_000001.9:g.45113907A>C | NCBI36 |
| NG_015864.1:g.116042T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360403.7:c.1023T>G MANE Select | ENSP00000353575.2:p.His341Gln | |
| ENST00000360403.6:c.1023T>G | ENSP00000353575.2:p.His341Gln | |
| ENST00000372183.7:c.1023T>G | ENSP00000361257.3:p.His341Gln | |
| ENST00000439363.5:c.485T>G | ||
| ENST00000620860.4:c.1023T>G | ENSP00000483996.1:p.His341Gln | |
| NM_001166588.2:c.1023T>G | NP_001160060.1:p.His341Gln | |
| NM_001261418.1:c.1023T>G | NP_001248347.1:p.His341Gln | |
| NM_020365.4:c.1023T>G | NP_065098.1:p.His341Gln | |
| XM_011542396.1:c.933T>G | XP_011540698.1:p.His311Gln | |
| XM_017002745.2:c.1023T>G | XP_016858234.1:p.His341Gln | |
| XM_017002746.1:c.636T>G | XP_016858235.1:p.His212Gln | |
| XM_017002747.1:c.636T>G | XP_016858236.1:p.His212Gln | |
| NM_020365.5:c.1023T>G MANE Select | NP_065098.1:p.His341Gln | |
| NM_001166588.3:c.1023T>G | NP_001160060.1:p.His341Gln | |
| NM_001261418.2:c.1023T>G | NP_001248347.1:p.His341Gln |