Revel Score:
ENST00000438926
0.985
ENST00000262502
0.985
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001883 (NFE)
Genomes Max Group AF
0.00001972 (NFE)
Exomes Max Group AF
0.00001663 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56870699T>C , CM000678.2:g.56870699T>C | GRCh38 |
| NC_000016.9:g.56904611T>C , CM000678.1:g.56904611T>C | GRCh37 |
| NC_000016.8:g.55462112T>C | NCBI36 |
| NG_009386.1:g.10493T>C | |
| NG_009386.2:g.10493T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000563236.6:c.815T>C MANE Select | ENSP00000456149.2:p.Leu272Pro | |
| ENST00000262502.5:c.812T>C | ENSP00000262502.5:p.Leu271Pro | |
| ENST00000438926.6:c.815T>C | ENSP00000402152.2:p.Leu272Pro | |
| ENST00000563236.5:c.815T>C | ENSP00000456149.1:p.Leu272Pro | |
| ENST00000566786.5:c.812T>C | ENSP00000457552.1:p.Leu271Pro | |
| NM_000339.2:c.815T>C | NP_000330.2:p.Leu272Pro | |
| NM_001126107.1:c.812T>C | NP_001119579.1:p.Leu271Pro | |
| NM_001126108.1:c.815T>C | NP_001119580.1:p.Leu272Pro | |
| XM_005256119.1:c.812T>C | XP_005256176.1:p.Leu271Pro | |
| XM_005256119.2:c.812T>C | XP_005256176.1:p.Leu271Pro | |
| NM_000339.3:c.815T>C | NP_000330.3:p.Leu272Pro | |
| NM_001126107.2:c.812T>C | NP_001119579.2:p.Leu271Pro | |
| NM_001126108.2:c.815T>C MANE Select | NP_001119580.2:p.Leu272Pro |