Revel Score:
ENST00000375946
0.210
ENST00000342386
0.210
ENST00000375940 (MANE Select)
0.210
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.27161130G>T , CM000672.2:g.27161130G>T | GRCh38 |
| NC_000010.10:g.27450059G>T , CM000672.1:g.27450059G>T | GRCh37 |
| NC_000010.9:g.27490065G>T | NCBI36 |
| NG_016987.1:g.11307G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375940.9:c.501G>T MANE Select | ENSP00000365107.5:p.Glu167Asp | |
| ENST00000342386.10:c.501G>T | ENSP00000343446.5:p.Glu167Asp | |
| ENST00000375940.8:c.501G>T | ENSP00000365107.4:p.Glu167Asp | |
| ENST00000375946.8:c.501G>T | ENSP00000365113.4:p.Glu167Asp | |
| NM_001172303.1:c.501G>T | NP_001165774.1:p.Glu167Asp | |
| NM_001172304.1:c.501G>T | NP_001165775.1:p.Glu167Asp | |
| NM_032844.3:c.501G>T | NP_116233.2:p.Glu167Asp | |
| XM_005252630.2:c.501G>T | XP_005252687.1:p.Glu167Asp | |
| XM_005252631.2:c.501G>T | XP_005252688.1:p.Glu167Asp | |
| XM_005252632.2:c.501G>T | XP_005252689.1:p.Glu167Asp | |
| XM_006717518.2:c.501G>T | XP_006717581.1:p.Glu167Asp | |
| XM_006717519.2:c.501G>T | XP_006717582.1:p.Glu167Asp | |
| XM_006717520.2:c.501G>T | XP_006717583.1:p.Glu167Asp | |
| XR_930523.1:n.576G>T | ||
| NM_001172303.2:c.501G>T | NP_001165774.1:p.Glu167Asp | |
| NM_001172304.2:c.501G>T | NP_001165775.1:p.Glu167Asp | |
| NM_001320756.1:c.501G>T | NP_001307685.1:p.Glu167Asp | |
| NM_001320757.1:c.501G>T | NP_001307686.1:p.Glu167Asp | |
| NM_032844.4:c.501G>T | NP_116233.2:p.Glu167Asp | |
| NR_135469.1:n.1104G>T | ||
| XM_005252631.4:c.501G>T | XP_005252688.1:p.Glu167Asp | |
| XM_005252632.4:c.501G>T | XP_005252689.1:p.Glu167Asp | |
| XM_006717519.4:c.501G>T | XP_006717582.1:p.Glu167Asp | |
| XM_006717520.4:c.501G>T | XP_006717583.1:p.Glu167Asp | |
| XM_017016852.2:c.501G>T | XP_016872341.1:p.Glu167Asp | |
| XM_017016853.2:c.354G>T | XP_016872342.1:p.Glu118Asp | |
| XM_017016855.2:c.501G>T | XP_016872344.1:p.Glu167Asp | |
| XM_017016856.2:c.501G>T | XP_016872345.1:p.Glu167Asp | |
| XM_024448243.1:c.501G>T | XP_024304011.1:p.Glu167Asp | |
| XM_024448244.1:c.501G>T | XP_024304012.1:p.Glu167Asp | |
| NM_001172303.3:c.501G>T MANE Select | NP_001165774.1:p.Glu167Asp | |
| NM_001172304.3:c.501G>T | NP_001165775.1:p.Glu167Asp | |
| NM_001320756.2:c.501G>T | NP_001307685.1:p.Glu167Asp | |
| NM_001320757.2:c.501G>T | NP_001307686.1:p.Glu167Asp | |
| NM_001372029.1:c.18G>T | NP_001358958.1:p.Glu6Asp | |
| NM_001372030.1:c.18G>T | NP_001358959.1:p.Glu6Asp | |
| NM_032844.5:c.501G>T | NP_116233.2:p.Glu167Asp | |
| NR_135469.2:n.576G>T |