Revel Score:
ENST00000487664
0.551
ENST00000298480
0.551
ENST00000371757 (MANE Select)
0.551
ENST00000473941
0.551
ENST00000486577
0.551
ENST00000491806
0.551
ENST00000488444
0.551
ENST00000490355
0.551
ENST00000263604
0.551
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.135759686G>T , CM000671.2:g.135759686G>T | GRCh38 |
| NC_000009.11:g.138651532G>T , CM000671.1:g.138651532G>T | GRCh37 |
| NC_000009.10:g.137791353G>T | NCBI36 |
| NG_033070.1:g.62502G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371757.7:c.862G>T MANE Select | ENSP00000360822.2:p.Gly288Cys | |
| ENST00000674572.1:c.703G>T | ENSP00000501742.1:p.Gly235Cys | |
| ENST00000675090.1:c.610G>T | ENSP00000501833.1:p.Gly204Cys | |
| ENST00000675399.1:c.610G>T | ENSP00000501932.1:p.Gly204Cys | |
| ENST00000676421.1:c.619G>T | ENSP00000502322.1:p.Gly207Cys | |
| ENST00000263604.5:c.763G>T | ENSP00000263604.4:p.Gly255Cys | |
| ENST00000371757.6:c.862G>T | ENSP00000360822.2:p.Gly288Cys | |
| ENST00000460750.5:c.*472G>T | ENSP00000418777.1:n.*472G>T | |
| ENST00000473941.5:c.703G>T | ENSP00000420764.1:p.Gly235Cys | |
| ENST00000486577.6:c.745G>T | ENSP00000417578.3:p.Gly249Cys | |
| ENST00000487664.5:c.862G>T | ENSP00000417851.2:p.Gly288Cys | |
| ENST00000488444.6:c.805G>T | ENSP00000419007.3:p.Gly269Cys | |
| ENST00000490355.6:c.805G>T | ENSP00000418003.3:p.Gly269Cys | |
| ENST00000490363.3:n.681G>T | ||
| ENST00000491806.6:c.805G>T | ENSP00000419086.3:p.Gly269Cys | |
| ENST00000628528.2:c.727G>T | ENSP00000486374.1:p.Gly243Cys | |
| ENST00000630792.2:c.703G>T | ENSP00000486486.1:p.Gly235Cys | |
| ENST00000631073.2:c.805G>T | ENSP00000486130.1:p.Gly269Cys | |
| NM_001272003.1:c.727G>T | NP_001258932.1:p.Gly243Cys | |
| NM_020822.2:c.862G>T | NP_065873.2:p.Gly288Cys | |
| XM_011518877.1:c.997G>T | XP_011517179.1:p.Gly333Cys | |
| XM_011518878.1:c.1006G>T | XP_011517180.1:p.Gly336Cys | |
| XM_011518879.1:c.997G>T | XP_011517181.1:p.Gly333Cys | |
| XM_011518880.1:c.763G>T | XP_011517182.1:p.Gly255Cys | |
| XM_011518881.1:c.352G>T | XP_011517183.1:p.Gly118Cys | |
| XM_011518877.3:c.997G>T | XP_011517179.1:p.Gly333Cys | |
| XM_011518878.3:c.1006G>T | XP_011517180.1:p.Gly336Cys | |
| XM_011518879.3:c.997G>T | XP_011517181.1:p.Gly333Cys | |
| XM_011518881.3:c.352G>T | XP_011517183.1:p.Gly118Cys | |
| XM_017014931.1:c.796G>T | XP_016870420.1:p.Gly266Cys | |
| XM_017014932.1:c.619G>T | XP_016870421.1:p.Gly207Cys | |
| XM_017014933.1:c.352G>T | XP_016870422.1:p.Gly118Cys | |
| XM_024447617.1:c.352G>T | XP_024303385.1:p.Gly118Cys | |
| XM_024447618.1:c.352G>T | XP_024303386.1:p.Gly118Cys | |
| NM_020822.3:c.862G>T MANE Select | NP_065873.2:p.Gly288Cys | |
| NM_001272003.2:c.727G>T | NP_001258932.1:p.Gly243Cys |