Revel Score:
ENST00000487664
0.371
ENST00000298480
0.371
ENST00000371757 (MANE Select)
0.371
ENST00000486577
0.371
ENST00000491806
0.371
ENST00000488444
0.371
ENST00000490355
0.371
ENST00000263604
0.371
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000441 (NFE)
Exomes Max Group AF
0.00000469 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.135770048C>T , CM000671.2:g.135770048C>T | GRCh38 |
| NC_000009.11:g.138661894C>T , CM000671.1:g.138661894C>T | GRCh37 |
| NC_000009.10:g.137801715C>T | NCBI36 |
| NG_033070.1:g.72864C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371757.7:c.1612C>T MANE Select | ENSP00000360822.2:p.Arg538Cys | |
| ENST00000674572.1:c.1453C>T | ENSP00000501742.1:p.Arg485Cys | |
| ENST00000675090.1:c.1360C>T | ENSP00000501833.1:p.Arg454Cys | |
| ENST00000675399.1:c.1360C>T | ENSP00000501932.1:p.Arg454Cys | |
| ENST00000676421.1:c.1369C>T | ENSP00000502322.1:p.Arg457Cys | |
| ENST00000263604.5:c.1513C>T | ENSP00000263604.4:p.Arg505Cys | |
| ENST00000371757.6:c.1612C>T | ENSP00000360822.2:p.Arg538Cys | |
| ENST00000460750.5:c.*1222C>T | ENSP00000418777.1:n.*1222C>T | |
| ENST00000486577.6:c.1495C>T | ENSP00000417578.3:p.Arg499Cys | |
| ENST00000487664.5:c.1612C>T | ENSP00000417851.2:p.Arg538Cys | |
| ENST00000488444.6:c.1555C>T | ENSP00000419007.3:p.Arg519Cys | |
| ENST00000490355.6:c.1555C>T | ENSP00000418003.3:p.Arg519Cys | |
| ENST00000490363.3:n.1431C>T | ||
| ENST00000491806.6:c.1555C>T | ENSP00000419086.3:p.Arg519Cys | |
| ENST00000628528.2:c.1477C>T | ENSP00000486374.1:p.Arg493Cys | |
| ENST00000630792.2:c.1453C>T | ENSP00000486486.1:p.Arg485Cys | |
| ENST00000631073.2:c.1555C>T | ENSP00000486130.1:p.Arg519Cys | |
| NM_001272003.1:c.1477C>T | NP_001258932.1:p.Arg493Cys | |
| NM_020822.2:c.1612C>T | NP_065873.2:p.Arg538Cys | |
| XM_011518877.1:c.1747C>T | XP_011517179.1:p.Arg583Cys | |
| XM_011518878.1:c.1756C>T | XP_011517180.1:p.Arg586Cys | |
| XM_011518879.1:c.1747C>T | XP_011517181.1:p.Arg583Cys | |
| XM_011518880.1:c.1513C>T | XP_011517182.1:p.Arg505Cys | |
| XM_011518881.1:c.1102C>T | XP_011517183.1:p.Arg368Cys | |
| XM_011518877.3:c.1747C>T | XP_011517179.1:p.Arg583Cys | |
| XM_011518878.3:c.1756C>T | XP_011517180.1:p.Arg586Cys | |
| XM_011518879.3:c.1747C>T | XP_011517181.1:p.Arg583Cys | |
| XM_011518881.3:c.1102C>T | XP_011517183.1:p.Arg368Cys | |
| XM_017014931.1:c.1546C>T | XP_016870420.1:p.Arg516Cys | |
| XM_017014932.1:c.1369C>T | XP_016870421.1:p.Arg457Cys | |
| XM_017014933.1:c.1102C>T | XP_016870422.1:p.Arg368Cys | |
| XM_024447617.1:c.1102C>T | XP_024303385.1:p.Arg368Cys | |
| XM_024447618.1:c.1102C>T | XP_024303386.1:p.Arg368Cys | |
| NM_020822.3:c.1612C>T MANE Select | NP_065873.2:p.Arg538Cys | |
| NM_001272003.2:c.1477C>T | NP_001258932.1:p.Arg493Cys |