Revel Score:
ENST00000320868 (MANE Select)
0.732
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000126 (NFE)
Exomes Max Group AF
0.00000133 (NFE)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.176765A>G , CM000678.2:g.176765A>G | GRCh38 |
| NC_000016.9:g.226764A>G , CM000678.1:g.226764A>G | GRCh37 |
| NC_000016.8:g.166764A>G | NCBI36 |
| NG_000006.1:g.37628A>G | |
| NG_059186.1:g.5115A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320868.9:c.49A>G MANE Select | ENSP00000322421.5:p.Lys17Glu | |
| ENST00000397797.1:c.-2+3A>G | ENSP00000380899.1:n.-2+3A>G | |
| ENST00000472694.1:n.68A>G | ||
| ENST00000487791.1:n.18A>G | ||
| NM_000558.4:c.49A>G | NP_000549.1:p.Lys17Glu | |
| NM_000558.5:c.49A>G MANE Select | NP_000549.1:p.Lys17Glu |