Revel Score:
ENST00000409013 (MANE Select)
0.530
ENST00000409890
0.530
ENST00000409344
0.530
ENST00000393852
0.530
ENST00000315658
0.530
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00001426 (SAS)
Exomes Max Group AF
0.00001583 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.85389806T>C , CM000664.2:g.85389806T>C | GRCh38 |
| NC_000002.11:g.85616929T>C , CM000664.1:g.85616929T>C | GRCh37 |
| NC_000002.10:g.85470440T>C | NCBI36 |
| NG_051291.1:g.40413T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409013.8:c.794T>C MANE Select | ENSP00000387139.3:p.Leu265Ser | |
| ENST00000315658.11:c.794T>C | ENSP00000318264.7:p.Leu265Ser | |
| ENST00000393852.8:c.794T>C | ENSP00000377434.4:p.Leu265Ser | |
| ENST00000409013.7:c.794T>C | ENSP00000387139.3:p.Leu265Ser | |
| ENST00000409344.7:c.794T>C | ENSP00000386248.3:p.Leu265Ser | |
| ENST00000409890.6:c.794T>C | ENSP00000386304.2:p.Leu265Ser | |
| ENST00000410106.5:c.*466T>C | ENSP00000387134.1:n.*466T>C | |
| ENST00000414593.5:c.*185T>C | ENSP00000394774.1:n.*185T>C | |
| ENST00000423095.7:c.*179T>C | ENSP00000408745.3:n.*179T>C | |
| ENST00000444108.7:c.*157T>C | ENSP00000401984.2:n.*157T>C | |
| ENST00000446464.7:c.*157T>C | ENSP00000407599.3:n.*157T>C | |
| ENST00000486908.1:n.259T>C | ||
| ENST00000490508.5:n.1006T>C | ||
| ENST00000496957.1:n.222T>C | ||
| NM_001135021.1:c.794T>C | NP_001128493.1:p.Leu265Ser | |
| NM_001135022.1:c.794T>C | NP_001128494.1:p.Leu265Ser | |
| NM_001135023.1:c.794T>C | NP_001128495.1:p.Leu265Ser | |
| NM_032213.4:c.794T>C | NP_115589.2:p.Leu265Ser | |
| XM_005264596.2:c.794T>C | XP_005264653.1:p.Leu265Ser | |
| XM_005264597.2:c.794T>C | XP_005264654.1:p.Leu265Ser | |
| XM_005264598.2:c.794T>C | XP_005264655.1:p.Leu265Ser | |
| XR_426997.1:n.1073T>C | ||
| XR_940315.1:n.86-220A>G | ||
| NM_001329791.1:c.794T>C | NP_001316720.1:p.Leu265Ser | |
| NM_001329792.1:c.794T>C | NP_001316721.1:p.Leu265Ser | |
| NM_001329793.1:c.794T>C | NP_001316722.1:p.Leu265Ser | |
| NR_138131.1:n.1438T>C | ||
| NR_138132.1:n.1450T>C | ||
| NR_138133.1:n.1141T>C | ||
| XM_024453169.1:c.794T>C | XP_024308937.1:p.Leu265Ser | |
| XM_024453170.1:c.794T>C | XP_024308938.1:p.Leu265Ser | |
| XM_024453171.1:c.794T>C | XP_024308939.1:p.Leu265Ser | |
| XM_024453172.1:c.794T>C | XP_024308940.1:p.Leu265Ser | |
| XR_001738978.1:n.1403T>C | ||
| XR_001738979.1:n.1308T>C | ||
| NM_001135022.2:c.794T>C MANE Select | NP_001128494.1:p.Leu265Ser | |
| NM_001135021.2:c.794T>C | NP_001128493.1:p.Leu265Ser | |
| NM_001135023.2:c.794T>C | NP_001128495.1:p.Leu265Ser | |
| NM_001329791.2:c.794T>C | NP_001316720.1:p.Leu265Ser | |
| NM_001329792.2:c.794T>C | NP_001316721.1:p.Leu265Ser | |
| NM_001329793.2:c.794T>C | NP_001316722.1:p.Leu265Ser | |
| NR_138131.2:n.1389T>C | ||
| NR_138132.2:n.1401T>C | ||
| NR_138133.2:n.1092T>C |