Revel Score:
ENST00000487664
0.834
ENST00000298480
0.834
ENST00000371757 (MANE Select)
0.834
ENST00000486577
0.834
ENST00000491806
0.834
ENST00000488444
0.834
ENST00000490355
0.834
ENST00000263604
0.834
gnomAD v2:
gnomAD v4:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.135779411C>T , CM000671.2:g.135779411C>T | GRCh38 |
| NC_000009.11:g.138671257C>T , CM000671.1:g.138671257C>T | GRCh37 |
| NC_000009.10:g.137811078C>T | NCBI36 |
| NG_033070.1:g.82227C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371757.7:c.2782C>T MANE Select | ENSP00000360822.2:p.Arg928Cys | |
| ENST00000674572.1:c.2623C>T | ENSP00000501742.1:p.Arg875Cys | |
| ENST00000675090.1:c.2530C>T | ENSP00000501833.1:p.Arg844Cys | |
| ENST00000675102.1:n.1316C>T | ||
| ENST00000675399.1:c.2530C>T | ENSP00000501932.1:p.Arg844Cys | |
| ENST00000676421.1:c.2539C>T | ENSP00000502322.1:p.Arg847Cys | |
| ENST00000263604.5:c.2683C>T | ENSP00000263604.4:p.Arg895Cys | |
| ENST00000371757.6:c.2782C>T | ENSP00000360822.2:p.Arg928Cys | |
| ENST00000460750.5:c.*2392C>T | ENSP00000418777.1:n.*2392C>T | |
| ENST00000486577.6:c.2665C>T | ENSP00000417578.3:p.Arg889Cys | |
| ENST00000487664.5:c.2782C>T | ENSP00000417851.2:p.Arg928Cys | |
| ENST00000488444.6:c.2725C>T | ENSP00000419007.3:p.Arg909Cys | |
| ENST00000490355.6:c.2719C>T | ENSP00000418003.3:p.Arg907Cys | |
| ENST00000490363.3:n.2601C>T | ||
| ENST00000491806.6:c.2725C>T | ENSP00000419086.3:p.Arg909Cys | |
| ENST00000628528.2:c.2647C>T | ENSP00000486374.1:p.Arg883Cys | |
| ENST00000630792.2:c.2617C>T | ENSP00000486486.1:p.Arg873Cys | |
| ENST00000631073.2:c.2725C>T | ENSP00000486130.1:p.Arg909Cys | |
| ENST00000631193.1:c.648C>T | ENSP00000486830.1:n.648C>T | |
| NM_001272003.1:c.2647C>T | NP_001258932.1:p.Arg883Cys | |
| NM_020822.2:c.2782C>T | NP_065873.2:p.Arg928Cys | |
| XM_011518877.1:c.2917C>T | XP_011517179.1:p.Arg973Cys | |
| XM_011518878.1:c.2926C>T | XP_011517180.1:p.Arg976Cys | |
| XM_011518879.1:c.2917C>T | XP_011517181.1:p.Arg973Cys | |
| XM_011518880.1:c.2683C>T | XP_011517182.1:p.Arg895Cys | |
| XM_011518881.1:c.2272C>T | XP_011517183.1:p.Arg758Cys | |
| XM_011518877.3:c.2917C>T | XP_011517179.1:p.Arg973Cys | |
| XM_011518878.3:c.2926C>T | XP_011517180.1:p.Arg976Cys | |
| XM_011518879.3:c.2917C>T | XP_011517181.1:p.Arg973Cys | |
| XM_011518881.3:c.2272C>T | XP_011517183.1:p.Arg758Cys | |
| XM_017014931.1:c.2716C>T | XP_016870420.1:p.Arg906Cys | |
| XM_017014932.1:c.2539C>T | XP_016870421.1:p.Arg847Cys | |
| XM_017014933.1:c.2272C>T | XP_016870422.1:p.Arg758Cys | |
| XM_024447617.1:c.2272C>T | XP_024303385.1:p.Arg758Cys | |
| XM_024447618.1:c.2272C>T | XP_024303386.1:p.Arg758Cys | |
| NM_020822.3:c.2782C>T MANE Select | NP_065873.2:p.Arg928Cys | |
| NM_001272003.2:c.2647C>T | NP_001258932.1:p.Arg883Cys |