Revel Score:
ENST00000377567
0.041
ENST00000377574 (MANE Select)
0.041
ENST00000377572
0.041
ENST00000336464
0.041
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64592802T>G , CM000673.2:g.64592802T>G | GRCh38 |
| NC_000011.9:g.64360274T>G , CM000673.1:g.64360274T>G | GRCh37 |
| NC_000011.8:g.64116850T>G | NCBI36 |
| NG_008110.1:g.6993T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377574.6:c.426T>G MANE Select | ENSP00000366797.1:p.His142Gln | |
| ENST00000336464.7:c.426T>G | ENSP00000336836.7:p.His142Gln | |
| ENST00000377567.6:c.426T>G | ENSP00000366790.2:p.His142Gln | |
| ENST00000377572.5:c.426T>G | ENSP00000366795.1:p.His142Gln | |
| ENST00000377574.5:c.426T>G | ENSP00000366797.1:p.His142Gln | |
| ENST00000473690.5:c.-83T>G | ENSP00000438437.1:n.-83T>G | |
| NM_001276326.1:c.426T>G | NP_001263255.1:p.His142Gln | |
| NM_001276327.1:c.426T>G | NP_001263256.1:p.His142Gln | |
| NM_144585.3:c.426T>G | NP_653186.2:p.His142Gln | |
| NM_153378.2:c.-83T>G | NP_700357.1:n.-83T>G | |
| XM_006718430.2:c.426T>G | XP_006718493.1:p.His142Gln | |
| XM_006718431.2:c.321T>G | XP_006718494.1:p.His107Gln | |
| XM_006718430.4:c.426T>G | XP_006718493.1:p.His142Gln | |
| XM_006718431.4:c.321T>G | XP_006718494.1:p.His107Gln | |
| NM_144585.4:c.426T>G MANE Select | NP_653186.2:p.His142Gln | |
| NM_001276326.2:c.426T>G | NP_001263255.1:p.His142Gln | |
| NM_153378.3:c.-83T>G | NP_700357.1:n.-83T>G | |
| NM_001276327.2:c.426T>G | NP_001263256.1:p.His142Gln |