Revel Score:
ENST00000380299
0.947
ENST00000417377
0.511
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000553 (AMR)
Exomes Max Group AF
0.00000741 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5232983A>G , CM000673.2:g.5232983A>G | GRCh38 |
| NC_000011.9:g.5254213A>G , CM000673.1:g.5254213A>G | GRCh37 |
| NC_000011.8:g.5210789A>G | NCBI36 |
| NG_000007.3:g.64633T>C | |
| NG_063112.2:g.15675T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643122.1:c.425T>C | ENSP00000494708.1:p.Leu142Pro | |
| ENST00000650601.1:c.425T>C MANE Select | ENSP00000497529.1:p.Leu142Pro | |
| ENST00000292901.7:c.316-185T>C | ENSP00000292901.3:n.316-185T>C | |
| ENST00000380299.3:c.425T>C | ENSP00000369654.3:p.Leu142Pro | |
| ENST00000417377.1:c.202T>C | ENSP00000414741.1:p.Trp68Arg | |
| NM_000519.3:c.425T>C | NP_000510.1:p.Leu142Pro | |
| NM_000519.4:c.425T>C MANE Select | NP_000510.1:p.Leu142Pro |