Revel Score:
ENST00000437932
0.439
ENST00000317968 (MANE Select)
0.439
ENST00000503974
0.439
ENST00000542407
0.439
ENST00000514743
0.439
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.94657437G>T , CM000666.2:g.94657437G>T | GRCh38 |
| NC_000004.11:g.95578588G>T , CM000666.1:g.95578588G>T | GRCh37 |
| NC_000004.10:g.95797611G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317968.9:c.1475G>T MANE Select | ENSP00000321746.4:p.Ser492Ile | |
| ENST00000317968.8:c.1475G>T | ENSP00000321746.4:p.Ser492Ile | |
| ENST00000380176.7:n.1368G>T | ||
| ENST00000437932.5:c.500G>T | ENSP00000398469.2:p.Ser167Ile | |
| ENST00000503974.5:c.1166G>T | ENSP00000424297.1:p.Ser389Ile | |
| ENST00000506632.2:c.797G>T | ||
| ENST00000514743.5:c.1562G>T | ENSP00000424360.1:p.Ser521Ile | |
| ENST00000542407.5:c.1148G>T | ENSP00000442187.2:p.Ser383Ile | |
| ENST00000615540.4:c.1562G>T | ENSP00000480359.1:p.Ser521Ile | |
| ENST00000627587.2:c.*1203G>T | ENSP00000486938.1:n.*1203G>T | |
| NM_001011513.3:c.1148G>T | NP_001011513.3:p.Ser383Ile | |
| NM_001256425.1:c.500G>T | NP_001243354.1:p.Ser167Ile | |
| NM_001256426.1:c.1562G>T | NP_001243355.1:p.Ser521Ile | |
| NM_001256427.1:c.1166G>T | NP_001243356.1:p.Ser389Ile | |
| NM_001256428.1:c.1109G>T | NP_001243357.1:p.Ser370Ile | |
| NM_006457.4:c.1475G>T | NP_006448.4:p.Ser492Ile | |
| XM_005262693.3:c.1889G>T | XP_005262750.1:p.Ser630Ile | |
| XM_005262695.3:c.1871G>T | XP_005262752.1:p.Ser624Ile | |
| XM_005262696.3:c.1544G>T | XP_005262753.1:p.Ser515Ile | |
| XM_005262698.3:c.1166G>T | XP_005262755.1:p.Ser389Ile | |
| XM_006714066.2:c.1904G>T | XP_006714129.1:p.Ser635Ile | |
| XM_006714067.2:c.1904G>T | XP_006714130.1:p.Ser635Ile | |
| XM_006714068.2:c.1577G>T | XP_006714131.1:p.Ser526Ile | |
| XM_006714069.2:c.1508G>T | XP_006714132.1:p.Ser503Ile | |
| XM_006714070.2:c.1502G>T | XP_006714133.1:p.Ser501Ile | |
| XM_011531543.1:c.1487G>T | XP_011529845.1:p.Ser496Ile | |
| XM_005262693.5:c.1889G>T | XP_005262750.1:p.Ser630Ile | |
| XM_005262695.5:c.1871G>T | XP_005262752.1:p.Ser624Ile | |
| XM_005262696.4:c.1544G>T | XP_005262753.1:p.Ser515Ile | |
| XM_005262698.4:c.1166G>T | XP_005262755.1:p.Ser389Ile | |
| XM_006714066.4:c.1904G>T | XP_006714129.1:p.Ser635Ile | |
| XM_006714068.3:c.1577G>T | XP_006714131.1:p.Ser526Ile | |
| XM_006714069.4:c.1508G>T | XP_006714132.1:p.Ser503Ile | |
| XM_006714070.3:c.1502G>T | XP_006714133.1:p.Ser501Ile | |
| XM_011531543.3:c.1487G>T | XP_011529845.1:p.Ser496Ile | |
| XM_017007657.2:c.1493G>T | XP_016863146.1:p.Ser498Ile | |
| XM_017007658.1:c.1181G>T | XP_016863147.1:p.Ser394Ile | |
| NM_001011513.4:c.1148G>T | NP_001011513.4:p.Ser383Ile | |
| NM_001256427.2:c.1166G>T | NP_001243356.2:p.Ser389Ile | |
| NM_001256428.2:c.1109G>T | NP_001243357.2:p.Ser370Ile | |
| NM_006457.5:c.1475G>T MANE Select | NP_006448.5:p.Ser492Ile | |
| NM_001256425.2:c.500G>T | NP_001243354.2:p.Ser167Ile | |
| NM_001256426.2:c.1562G>T | NP_001243355.2:p.Ser521Ile |