Revel Score:
ENST00000309893
0.957
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003116 (NFE)
Exomes Max Group AF
0.00003222 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.87891876A>G , CM000678.2:g.87891876A>G | GRCh38 |
| NC_000016.9:g.87925482A>G , CM000678.1:g.87925482A>G | GRCh37 |
| NC_000016.8:g.86482983A>G | NCBI36 |
| NG_033227.1:g.49631T>C | |
| NG_033227.2:g.49654T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648022.1:c.*136T>C | ENSP00000497934.1:n.*136T>C | |
| ENST00000648177.1:c.515T>C | ENSP00000497626.1:p.Leu172Pro | |
| ENST00000649158.1:c.697T>C | ENSP00000496993.1:p.Ser233Pro | |
| ENST00000649794.3:c.697T>C MANE Select | ENSP00000498065.2:p.Ser233Pro | |
| ENST00000309893.3:c.697T>C | ENSP00000309649.2:p.Ser233Pro | |
| ENST00000566402.2:n.393T>C | ||
| NM_001739.1:c.697T>C | NP_001730.1:p.Ser233Pro | |
| NM_001739.2:c.697T>C MANE Select | NP_001730.1:p.Ser233Pro | |
| XM_017023646.1:c.697T>C | XP_016879135.1:p.Ser233Pro | |
| XM_024450434.1:c.319T>C | XP_024306202.1:p.Ser107Pro | |
| XR_002957839.1:n.930T>C | ||
| NM_001367225.1:c.697T>C | NP_001354154.1:p.Ser233Pro | |
| NR_159798.1:n.884T>C | ||
| NR_159799.1:n.657T>C |