Revel Score:
ENST00000262304 (MANE Select)
0.437
ENST00000423118
0.437
ENST00000306101
0.437
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2102397A>C , CM000678.2:g.2102397A>C | GRCh38 |
| NC_000016.9:g.2152398A>C , CM000678.1:g.2152398A>C | GRCh37 |
| NC_000016.8:g.2092399A>C | NCBI36 |
| NG_008617.1:g.40824T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262304.9:c.9185T>G MANE Select | ENSP00000262304.4:p.Val3062Gly | |
| ENST00000262304.8:c.9185T>G | ENSP00000262304.4:p.Val3062Gly | |
| ENST00000415938.7:n.2264T>G | ||
| ENST00000423118.5:c.9185T>G | ENSP00000399501.1:p.Val3062Gly | |
| ENST00000471603.6:n.829T>G | ||
| ENST00000474088.1:n.601T>G | ||
| ENST00000475889.1:n.494T>G | ||
| ENST00000480227.5:n.922T>G | ||
| ENST00000483731.5:n.3071T>G | ||
| ENST00000486339.6:n.3321T>G | ||
| ENST00000487932.5:c.3747T>G | ENSP00000457132.1:n.3747T>G | |
| ENST00000496574.6:n.3421T>G | ||
| ENST00000562297.5:n.918T>G | ||
| ENST00000567946.1:c.787T>G | ||
| NM_000296.3:c.9185T>G | NP_000287.3:p.Val3062Gly | |
| NM_001009944.2:c.9185T>G | NP_001009944.2:p.Val3062Gly | |
| XM_005255370.2:c.6140T>G | XP_005255427.1:p.Val2047Gly | |
| XM_011522525.1:c.9263T>G | XP_011520827.1:p.Val3088Gly | |
| XM_011522526.1:c.9263T>G | XP_011520828.1:p.Val3088Gly | |
| XM_011522527.1:c.9261+2T>G | XP_011520829.1:n.9261+2T>G | |
| XM_011522528.1:c.9239T>G | XP_011520830.1:p.Val3080Gly | |
| XM_011522529.1:c.9239T>G | XP_011520831.1:p.Val3080Gly | |
| XM_011522530.1:c.9209T>G | XP_011520832.1:p.Val3070Gly | |
| XM_011522531.1:c.9191T>G | XP_011520833.1:p.Val3064Gly | |
| XM_011522532.1:c.9137T>G | XP_011520834.1:p.Val3046Gly | |
| XM_011522533.1:c.9056T>G | XP_011520835.1:p.Val3019Gly | |
| XM_011522534.1:c.8999T>G | XP_011520836.1:p.Val3000Gly | |
| XM_011522535.1:c.7085T>G | XP_011520837.1:p.Val2362Gly | |
| XM_011522536.1:c.9263T>G | XP_011520838.1:p.Val3088Gly | |
| XM_011522537.1:c.6263T>G | XP_011520839.1:p.Val2088Gly | |
| XR_932867.1:n.9278T>G | ||
| XR_932868.1:n.9278T>G | ||
| XR_932869.1:n.9278T>G | ||
| XR_932870.1:n.9278T>G | ||
| XM_005255370.3:c.6140T>G | XP_005255427.1:p.Val2047Gly | |
| XM_011522528.3:c.9239T>G | XP_011520830.1:p.Val3080Gly | |
| XM_011522529.2:c.9239T>G | XP_011520831.1:p.Val3080Gly | |
| XM_011522537.2:c.6263T>G | XP_011520839.1:p.Val2088Gly | |
| XM_024450298.1:c.9305T>G | XP_024306066.1:p.Val3102Gly | |
| XM_024450299.1:c.9233T>G | XP_024306067.1:p.Val3078Gly | |
| XM_024450300.1:c.9095T>G | XP_024306068.1:p.Val3032Gly | |
| XM_024450301.1:c.7181T>G | XP_024306069.1:p.Val2394Gly | |
| NM_000296.4:c.9185T>G | NP_000287.4:p.Val3062Gly | |
| NM_001009944.3:c.9185T>G MANE Select | NP_001009944.3:p.Val3062Gly |