Revel Score:
ENST00000299766 (MANE Select)
0.556
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000542 (NFE)
Exomes Max Group AF
0.00000531 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.60371529T>C , CM000680.2:g.60371529T>C | GRCh38 |
| NC_000018.9:g.58038762T>C , CM000680.1:g.58038762T>C | GRCh37 |
| NC_000018.8:g.56189742T>C | NCBI36 |
| NG_016441.1:g.6240A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299766.5:c.821A>G MANE Select | ENSP00000299766.3:p.Asn274Ser | |
| ENST00000299766.4:c.821A>G | ENSP00000299766.3:p.Asn274Ser | |
| NM_005912.2:c.821A>G | NP_005903.2:p.Asn274Ser | |
| NM_005912.3:c.821A>G MANE Select | NP_005903.2:p.Asn274Ser |