Revel Score:
ENST00000381298 (MANE Select)
0.138
ENST00000336909
0.138
ENST00000381294
0.138
ENST00000381287
0.138
ENST00000536319
0.138
ENST00000522633
0.138
ENST00000542298
0.138
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.55968325C>A , CM000667.2:g.55968325C>A | GRCh38 |
| NC_000005.9:g.55264153C>A , CM000667.1:g.55264153C>A | GRCh37 |
| NC_000005.8:g.55299910C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381294.8:c.442G>T | ENSP00000370694.3:p.Gly148Cys | |
| ENST00000506241.2:n.751G>T | ||
| ENST00000577363.2:c.65-4013G>T | ENSP00000513861.1:n.65-4013G>T | |
| ENST00000698638.1:c.-90-7764G>T | ENSP00000513851.1:n.-90-7764G>T | |
| ENST00000698639.1:c.442G>T | ENSP00000513852.1:p.Gly148Cys | |
| ENST00000698640.1:c.41-4013G>T | ENSP00000513853.1:n.41-4013G>T | |
| ENST00000698641.1:c.65-4013G>T | ENSP00000513854.1:n.65-4013G>T | |
| ENST00000698642.1:c.370+1225G>T | ENSP00000513855.1:n.370+1225G>T | |
| ENST00000698643.1:c.370+1225G>T | ENSP00000513856.1:n.370+1225G>T | |
| ENST00000698644.1:c.232G>T | ENSP00000513857.1:p.Gly78Cys | |
| ENST00000698645.1:c.442G>T | ENSP00000513858.1:p.Gly148Cys | |
| ENST00000698646.1:c.442G>T | ENSP00000513859.1:p.Gly148Cys | |
| ENST00000698647.1:c.*61G>T | ENSP00000513860.1:n.*61G>T | |
| ENST00000698648.1:c.370+1225G>T | ENSP00000513862.1:n.370+1225G>T | |
| ENST00000381298.7:c.442G>T MANE Select | ENSP00000370698.2:p.Gly148Cys | |
| ENST00000651614.1:c.442G>T | ENSP00000498224.1:p.Gly148Cys | |
| ENST00000336909.9:c.442G>T | ENSP00000338799.5:p.Gly148Cys | |
| ENST00000381286.7:c.64+7890G>T | ENSP00000370686.3:n.64+7890G>T | |
| ENST00000381287.8:c.442G>T | ENSP00000370687.4:p.Gly148Cys | |
| ENST00000381293.6:c.160+1435G>T | ENSP00000370693.2:n.160+1435G>T | |
| ENST00000381294.7:c.442G>T | ENSP00000370694.3:p.Gly148Cys | |
| ENST00000381298.6:c.442G>T | ENSP00000370698.2:p.Gly148Cys | |
| ENST00000396816.1:c.65-4013G>T | ENSP00000463896.1:n.65-4013G>T | |
| ENST00000502326.7:c.442G>T | ENSP00000462158.1:p.Gly148Cys | |
| ENST00000503773.6:c.442G>T | ENSP00000426224.2:p.Gly148Cys | |
| ENST00000522633.2:c.442G>T | ENSP00000435399.1:p.Gly148Cys | |
| ENST00000577363.1:n.179-4013G>T | ||
| NM_001190981.1:c.442G>T | NP_001177910.1:p.Gly148Cys | |
| NM_002184.3:c.442G>T | NP_002175.2:p.Gly148Cys | |
| NM_175767.2:c.442G>T | NP_786943.1:p.Gly148Cys | |
| NR_120480.1:n.755G>T | ||
| XM_011543376.1:c.442G>T | XP_011541678.1:p.Gly148Cys | |
| XM_011543377.1:c.442G>T | XP_011541679.1:p.Gly148Cys | |
| NM_001364275.1:c.442G>T | NP_001351204.1:p.Gly148Cys | |
| NM_001364276.1:c.232G>T | NP_001351205.1:p.Gly78Cys | |
| NM_001364277.1:c.-423+1225G>T | NP_001351206.1:n.-423+1225G>T | |
| NM_001364278.1:c.-413+1225G>T | NP_001351207.1:n.-413+1225G>T | |
| NM_001364279.1:c.-423+1225G>T | NP_001351208.1:n.-423+1225G>T | |
| NR_157112.1:n.725G>T | ||
| NM_002184.4:c.442G>T MANE Select | NP_002175.2:p.Gly148Cys | |
| NM_001190981.2:c.442G>T | NP_001177910.1:p.Gly148Cys | |
| NM_001364275.2:c.442G>T | NP_001351204.1:p.Gly148Cys | |
| NM_001364276.2:c.232G>T | NP_001351205.1:p.Gly78Cys | |
| NM_001364277.2:c.-423+1225G>T | NP_001351206.1:n.-423+1225G>T | |
| NM_001364278.2:c.-413+1225G>T | NP_001351207.1:n.-413+1225G>T | |
| NM_001364279.2:c.-423+1225G>T | NP_001351208.1:n.-423+1225G>T | |
| NM_175767.3:c.442G>T | NP_786943.1:p.Gly148Cys | |
| NR_120480.2:n.725G>T | ||
| NR_157112.2:n.725G>T |