Revel Score:
ENST00000252809 (MANE Select)
0.226
gnomAD v4:
Joint Max Group AF
0.000005 (NFE)
Exomes Max Group AF
0.00000531 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18386331T>C , CM000681.2:g.18386331T>C | GRCh38 |
| NC_000019.9:g.18497141T>C , CM000681.1:g.18497141T>C | GRCh37 |
| NC_000019.8:g.18358141T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000595973.3:c.142T>C | ENSP00000470531.3:p.Ser48Pro | |
| ENST00000597765.2:c.142T>C | ENSP00000469819.2:p.Ser48Pro | |
| ENST00000252809.3:c.142T>C MANE Select | ENSP00000252809.3:p.Ser48Pro | |
| ENST00000595973.2:c.142T>C | ENSP00000470531.2:p.Ser48Pro | |
| NM_004864.2:c.142T>C | NP_004855.2:p.Ser48Pro | |
| NM_004864.3:c.142T>C | NP_004855.2:p.Ser48Pro | |
| XM_024451789.1:c.142T>C | XP_024307557.1:p.Ser48Pro | |
| NM_004864.4:c.142T>C MANE Select | NP_004855.2:p.Ser48Pro |