Revel Score:
ENST00000415148
0.112
ENST00000433354
0.112
ENST00000449691
0.112
ENST00000437706
0.112
ENST00000360158
0.112
ENST00000428726 (MANE Select)
0.112
ENST00000433892
0.112
ENST00000531110
0.112
ENST00000278385
0.112
ENST00000533222
0.112
ENST00000528672
0.112
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.99188807 (EAS)
Genomes Max Group AF
0.97575893 (EAS)
Exomes Max Group AF
0.99155167 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.35208126T>C , CM000673.2:g.35208126T>C | GRCh38 |
| NC_000011.9:g.35229673T>C , CM000673.1:g.35229673T>C | GRCh37 |
| NC_000011.8:g.35186249T>C | NCBI36 |
| NG_008937.1:g.74257T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263398.11:c.668-6726T>C | ENSP00000263398.6:n.668-6726T>C | |
| ENST00000428726.8:c.1436T>C MANE Select | ENSP00000398632.2:p.Ile479Thr | |
| ENST00000525211.6:c.821T>C | ENSP00000432405.2:p.Ile274Thr | |
| ENST00000525685.6:c.547T>C | ||
| ENST00000526000.6:c.508-3120T>C | ||
| ENST00000526553.6:c.393T>C | ||
| ENST00000527889.6:c.463T>C | ||
| ENST00000531110.6:c.572T>C | ENSP00000436549.2:p.Ile191Thr | |
| ENST00000639002.1:c.59-60T>C | ENSP00000492449.1:n.59-60T>C | |
| ENST00000263398.10:c.668-6726T>C | ENSP00000263398.6:n.668-6726T>C | |
| ENST00000278385.10:c.197T>C | ENSP00000278385.6:p.Ile66Thr | |
| ENST00000278386.10:c.234-13579T>C | ENSP00000278386.6:n.234-13579T>C | |
| ENST00000279452.10:c.455-6726T>C | ENSP00000279452.6:n.455-6726T>C | |
| ENST00000352818.8:c.668-11190T>C | ENSP00000309732.6:n.668-11190T>C | |
| ENST00000415148.6:c.1307T>C | ENSP00000389830.2:p.Ile436Thr | |
| ENST00000425428.6:c.*291-6726T>C | ENSP00000395953.2:n.*291-6726T>C | |
| ENST00000428726.6:c.1436T>C | ENSP00000398632.2:p.Ile479Thr | |
| ENST00000433892.6:c.689T>C | ENSP00000392331.2:p.Ile230Thr | |
| ENST00000434472.6:c.668-3120T>C | ENSP00000404447.2:n.668-3120T>C | |
| ENST00000442151.6:c.666-6726T>C | ||
| ENST00000525293.5:n.168-3120T>C | ||
| ENST00000525685.5:c.547T>C | ||
| ENST00000525688.5:c.311-6726T>C | ENSP00000436980.1:n.311-6726T>C | |
| ENST00000526000.5:c.509-3120T>C | ENSP00000434465.1:n.509-3120T>C | |
| ENST00000526553.5:c.393T>C | ||
| ENST00000526669.6:c.290-11214T>C | ENSP00000432704.2:n.290-11214T>C | |
| ENST00000527889.5:c.463T>C | ||
| ENST00000528086.5:n.501-11T>C | ||
| ENST00000528672.1:c.260T>C | ENSP00000431860.1:p.Ile87Thr | |
| ENST00000531110.5:c.572T>C | ENSP00000436549.1:p.Ile191Thr | |
| ENST00000531873.5:c.430-1839T>C | ||
| ENST00000532339.1:n.551T>C | ||
| ENST00000533222.5:c.314T>C | ENSP00000435321.1:p.Ile105Thr | |
| NM_000610.3:c.1436T>C | NP_000601.3:p.Ile479Thr | |
| NM_001001389.1:c.1307T>C | NP_001001389.1:p.Ile436Thr | |
| NM_001001390.1:c.689T>C | NP_001001390.1:p.Ile230Thr | |
| NM_001001391.1:c.668-6726T>C | NP_001001391.1:n.668-6726T>C | |
| NM_001001392.1:c.234-13579T>C | NP_001001392.1:n.234-13579T>C | |
| NM_001202555.1:c.668-3120T>C | NP_001189484.1:n.668-3120T>C | |
| NM_001202556.1:c.668-11190T>C | NP_001189485.1:n.668-11190T>C | |
| NM_001202557.1:c.668-6726T>C | NP_001189486.1:n.668-6726T>C | |
| XM_005253231.2:c.1439T>C | XP_005253288.1:p.Ile480Thr | |
| XM_005253232.2:c.1436T>C | XP_005253289.1:p.Ile479Thr | |
| XM_005253233.2:c.1319T>C | XP_005253290.1:p.Ile440Thr | |
| XM_005253234.2:c.1316T>C | XP_005253291.1:p.Ile439Thr | |
| XM_005253235.2:c.1310T>C | XP_005253292.1:p.Ile437Thr | |
| XM_005253238.2:c.950T>C | XP_005253295.1:p.Ile317Thr | |
| XM_005253239.2:c.944T>C | XP_005253296.1:p.Ile315Thr | |
| XM_005253240.2:c.815T>C | XP_005253297.1:p.Ile272Thr | |
| XM_006718388.1:c.1433T>C | XP_006718451.1:p.Ile478Thr | |
| XM_011520482.1:c.1439T>C | XP_011518784.1:p.Ile480Thr | |
| XM_011520483.1:c.1184T>C | XP_011518785.1:p.Ile395Thr | |
| XM_011520484.1:c.1181T>C | XP_011518786.1:p.Ile394Thr | |
| XM_011520485.1:c.1178T>C | XP_011518787.1:p.Ile393Thr | |
| XM_011520486.1:c.821T>C | XP_011518788.1:p.Ile274Thr | |
| XM_011520488.1:c.689T>C | XP_011518790.1:p.Ile230Thr | |
| XM_005253231.3:c.1439T>C | XP_005253288.1:p.Ile480Thr | |
| XM_005253232.3:c.1436T>C | XP_005253289.1:p.Ile479Thr | |
| XM_005253235.3:c.1310T>C | XP_005253292.1:p.Ile437Thr | |
| XM_005253238.3:c.950T>C | XP_005253295.1:p.Ile317Thr | |
| XM_005253239.3:c.944T>C | XP_005253296.1:p.Ile315Thr | |
| XM_005253240.3:c.815T>C | XP_005253297.1:p.Ile272Thr | |
| XM_006718388.2:c.1433T>C | XP_006718451.1:p.Ile478Thr | |
| XM_011520482.2:c.1439T>C | XP_011518784.1:p.Ile480Thr | |
| XM_011520483.2:c.1184T>C | XP_011518785.1:p.Ile395Thr | |
| XM_011520484.2:c.1181T>C | XP_011518786.1:p.Ile394Thr | |
| XM_011520485.2:c.1178T>C | XP_011518787.1:p.Ile393Thr | |
| XM_011520486.2:c.821T>C | XP_011518788.1:p.Ile274Thr | |
| XM_011520488.2:c.689T>C | XP_011518790.1:p.Ile230Thr | |
| XM_017018583.2:c.1307T>C | XP_016874072.1:p.Ile436Thr | |
| XM_017018584.2:c.923-6726T>C | XP_016874073.1:n.923-6726T>C | |
| XM_017018585.2:c.794-6726T>C | XP_016874074.1:n.794-6726T>C | |
| NM_000610.4:c.1436T>C MANE Select | NP_000601.3:p.Ile479Thr | |
| NM_001001389.2:c.1307T>C | NP_001001389.1:p.Ile436Thr | |
| NM_001001390.2:c.689T>C | NP_001001390.1:p.Ile230Thr | |
| NM_001001391.2:c.668-6726T>C | NP_001001391.1:n.668-6726T>C | |
| NM_001001392.2:c.234-13579T>C | NP_001001392.1:n.234-13579T>C | |
| NM_001202555.2:c.668-3120T>C | NP_001189484.1:n.668-3120T>C | |
| NM_001202556.2:c.668-11190T>C | NP_001189485.1:n.668-11190T>C | |
| NM_001202557.2:c.668-6726T>C | NP_001189486.1:n.668-6726T>C |