Revel Score:
ENST00000262304 (MANE Select)
0.775
ENST00000423118
0.775
ENST00000306101
0.775
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2100396C>A , CM000678.2:g.2100396C>A | GRCh38 |
| NC_000016.9:g.2150397C>A , CM000678.1:g.2150397C>A | GRCh37 |
| NC_000016.8:g.2090398C>A | NCBI36 |
| NG_008617.1:g.42825G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262304.9:c.9568G>T MANE Select | ENSP00000262304.4:p.Gly3190Trp | |
| ENST00000262304.8:c.9568G>T | ENSP00000262304.4:p.Gly3190Trp | |
| ENST00000415938.7:n.2647G>T | ||
| ENST00000423118.5:c.9568G>T | ENSP00000399501.1:p.Gly3190Trp | |
| ENST00000469851.1:n.291G>T | ||
| ENST00000471603.6:n.1212G>T | ||
| ENST00000480227.5:n.1305G>T | ||
| ENST00000483731.5:n.3454G>T | ||
| ENST00000483814.1:n.370G>T | ||
| ENST00000486339.6:n.3704G>T | ||
| ENST00000487932.5:c.4130G>T | ENSP00000457132.1:n.4130G>T | |
| ENST00000496574.6:n.3804G>T | ||
| ENST00000562297.5:n.1301G>T | ||
| ENST00000566905.5:n.58G>T | ||
| ENST00000567946.1:c.1170G>T | ||
| ENST00000570193.5:n.12G>T | ||
| NM_000296.3:c.9568G>T | NP_000287.3:p.Gly3190Trp | |
| NM_001009944.2:c.9568G>T | NP_001009944.2:p.Gly3190Trp | |
| XM_005255370.2:c.6523G>T | XP_005255427.1:p.Gly2175Trp | |
| XM_011522525.1:c.9646G>T | XP_011520827.1:p.Gly3216Trp | |
| XM_011522526.1:c.9646G>T | XP_011520828.1:p.Gly3216Trp | |
| XM_011522527.1:c.9628G>T | XP_011520829.1:p.Gly3210Trp | |
| XM_011522528.1:c.9622G>T | XP_011520830.1:p.Gly3208Trp | |
| XM_011522529.1:c.9622G>T | XP_011520831.1:p.Gly3208Trp | |
| XM_011522530.1:c.9592G>T | XP_011520832.1:p.Gly3198Trp | |
| XM_011522531.1:c.9574G>T | XP_011520833.1:p.Gly3192Trp | |
| XM_011522532.1:c.9520G>T | XP_011520834.1:p.Gly3174Trp | |
| XM_011522533.1:c.9439G>T | XP_011520835.1:p.Gly3147Trp | |
| XM_011522534.1:c.9382G>T | XP_011520836.1:p.Gly3128Trp | |
| XM_011522535.1:c.7468G>T | XP_011520837.1:p.Gly2490Trp | |
| XM_011522536.1:c.9646G>T | XP_011520838.1:p.Gly3216Trp | |
| XM_011522537.1:c.6646G>T | XP_011520839.1:p.Gly2216Trp | |
| XR_932867.1:n.9661G>T | ||
| XR_932868.1:n.9661G>T | ||
| XR_932869.1:n.9661G>T | ||
| XR_932870.1:n.9661G>T | ||
| XM_005255370.3:c.6523G>T | XP_005255427.1:p.Gly2175Trp | |
| XM_011522528.3:c.9622G>T | XP_011520830.1:p.Gly3208Trp | |
| XM_011522529.2:c.9622G>T | XP_011520831.1:p.Gly3208Trp | |
| XM_011522537.2:c.6646G>T | XP_011520839.1:p.Gly2216Trp | |
| XM_024450298.1:c.9688G>T | XP_024306066.1:p.Gly3230Trp | |
| XM_024450299.1:c.9616G>T | XP_024306067.1:p.Gly3206Trp | |
| XM_024450300.1:c.9478G>T | XP_024306068.1:p.Gly3160Trp | |
| XM_024450301.1:c.7564G>T | XP_024306069.1:p.Gly2522Trp | |
| NM_000296.4:c.9568G>T | NP_000287.4:p.Gly3190Trp | |
| NM_001009944.3:c.9568G>T MANE Select | NP_001009944.3:p.Gly3190Trp |