Revel Score:
ENST00000262304 (MANE Select)
0.102
ENST00000423118
0.102
ENST00000306101
0.102
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2102384A>C , CM000678.2:g.2102384A>C | GRCh38 |
| NC_000016.9:g.2152385A>C , CM000678.1:g.2152385A>C | GRCh37 |
| NC_000016.8:g.2092386A>C | NCBI36 |
| NG_008617.1:g.40837T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262304.9:c.9198T>G MANE Select | ENSP00000262304.4:p.Phe3066Leu | |
| ENST00000262304.8:c.9198T>G | ENSP00000262304.4:p.Phe3066Leu | |
| ENST00000415938.7:n.2277T>G | ||
| ENST00000423118.5:c.9198T>G | ENSP00000399501.1:p.Phe3066Leu | |
| ENST00000471603.6:n.842T>G | ||
| ENST00000474088.1:n.614T>G | ||
| ENST00000475889.1:n.507T>G | ||
| ENST00000480227.5:n.935T>G | ||
| ENST00000483731.5:n.3084T>G | ||
| ENST00000486339.6:n.3334T>G | ||
| ENST00000487932.5:c.3760T>G | ENSP00000457132.1:n.3760T>G | |
| ENST00000496574.6:n.3434T>G | ||
| ENST00000562297.5:n.931T>G | ||
| ENST00000567946.1:c.800T>G | ||
| NM_000296.3:c.9198T>G | NP_000287.3:p.Phe3066Leu | |
| NM_001009944.2:c.9198T>G | NP_001009944.2:p.Phe3066Leu | |
| XM_005255370.2:c.6153T>G | XP_005255427.1:p.Phe2051Leu | |
| XM_011522525.1:c.9276T>G | XP_011520827.1:p.Phe3092Leu | |
| XM_011522526.1:c.9276T>G | XP_011520828.1:p.Phe3092Leu | |
| XM_011522527.1:c.9261+15T>G | XP_011520829.1:n.9261+15T>G | |
| XM_011522528.1:c.9252T>G | XP_011520830.1:p.Phe3084Leu | |
| XM_011522529.1:c.9252T>G | XP_011520831.1:p.Phe3084Leu | |
| XM_011522530.1:c.9222T>G | XP_011520832.1:p.Phe3074Leu | |
| XM_011522531.1:c.9204T>G | XP_011520833.1:p.Phe3068Leu | |
| XM_011522532.1:c.9150T>G | XP_011520834.1:p.Phe3050Leu | |
| XM_011522533.1:c.9069T>G | XP_011520835.1:p.Phe3023Leu | |
| XM_011522534.1:c.9012T>G | XP_011520836.1:p.Phe3004Leu | |
| XM_011522535.1:c.7098T>G | XP_011520837.1:p.Phe2366Leu | |
| XM_011522536.1:c.9276T>G | XP_011520838.1:p.Phe3092Leu | |
| XM_011522537.1:c.6276T>G | XP_011520839.1:p.Phe2092Leu | |
| XR_932867.1:n.9291T>G | ||
| XR_932868.1:n.9291T>G | ||
| XR_932869.1:n.9291T>G | ||
| XR_932870.1:n.9291T>G | ||
| XM_005255370.3:c.6153T>G | XP_005255427.1:p.Phe2051Leu | |
| XM_011522528.3:c.9252T>G | XP_011520830.1:p.Phe3084Leu | |
| XM_011522529.2:c.9252T>G | XP_011520831.1:p.Phe3084Leu | |
| XM_011522537.2:c.6276T>G | XP_011520839.1:p.Phe2092Leu | |
| XM_024450298.1:c.9318T>G | XP_024306066.1:p.Phe3106Leu | |
| XM_024450299.1:c.9246T>G | XP_024306067.1:p.Phe3082Leu | |
| XM_024450300.1:c.9108T>G | XP_024306068.1:p.Phe3036Leu | |
| XM_024450301.1:c.7194T>G | XP_024306069.1:p.Phe2398Leu | |
| NM_000296.4:c.9198T>G | NP_000287.4:p.Phe3066Leu | |
| NM_001009944.3:c.9198T>G MANE Select | NP_001009944.3:p.Phe3066Leu |