Revel Score:
ENST00000320868 (MANE Select)
0.384
ENST00000397797
0.384
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00019716 (AFR)
Genomes Max Group AF
0.00018794 (AFR)
Exomes Max Group AF
0.00013096 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.177040C>G , CM000678.2:g.177040C>G | GRCh38 |
| NC_000016.9:g.227039C>G , CM000678.1:g.227039C>G | GRCh37 |
| NC_000016.8:g.167039C>G | NCBI36 |
| NG_000006.1:g.37903C>G | |
| NG_059186.1:g.5390C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320868.9:c.207C>G MANE Select | ENSP00000322421.5:p.Asn69Lys | |
| ENST00000397797.1:c.111C>G | ENSP00000380899.1:p.Asn37Lys | |
| ENST00000472694.1:n.343C>G | ||
| ENST00000487791.1:n.176C>G | ||
| NM_000558.4:c.207C>G | NP_000549.1:p.Asn69Lys | |
| NM_000558.5:c.207C>G MANE Select | NP_000549.1:p.Asn69Lys |