Revel Score:
ENST00000368656 (MANE Select)
0.131
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.000005 (NFE)
Exomes Max Group AF
0.00000531 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.112099373T>G , CM000668.2:g.112099373T>G | GRCh38 |
| NC_000006.11:g.112420576T>G , CM000668.1:g.112420576T>G | GRCh37 |
| NC_000006.10:g.112527269T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368656.7:c.90T>G MANE Select | ENSP00000357645.2:p.Ser30Arg | |
| ENST00000368656.6:c.90T>G | ENSP00000357645.2:p.Ser30Arg | |
| ENST00000604268.1:c.90T>G | ENSP00000474987.1:p.Ser30Arg | |
| NM_001033564.2:c.90T>G | NP_001028736.1:p.Ser30Arg | |
| XM_017011174.2:c.90T>G | XP_016866663.1:p.Ser30Arg | |
| XM_017011175.2:c.90T>G | XP_016866664.1:p.Ser30Arg | |
| NM_001033564.3:c.90T>G MANE Select | NP_001028736.1:p.Ser30Arg |