Revel Score:
ENST00000379959 (MANE Select)
0.436
ENST00000256876
0.436
gnomAD v4:
Joint Max Group AF
0.00000247 (NFE)
Exomes Max Group AF
0.00000262 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.6021564C>T , CM000672.2:g.6021564C>T | GRCh38 |
| NC_000010.10:g.6063527C>T , CM000672.1:g.6063527C>T | GRCh37 |
| NC_000010.9:g.6103533C>T | NCBI36 |
| NG_007403.1:g.45746G>A , LRG_73:g.45746G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000447847.2:c.368-2065G>A | ENSP00000402024.2:n.368-2065G>A | |
| ENST00000697424.1:c.497G>A | ENSP00000513307.1:p.Ser166Asn | |
| ENST00000379959.8:c.497G>A MANE Select | ENSP00000369293.3:p.Ser166Asn | |
| ENST00000256876.10:c.497G>A | ENSP00000256876.6:p.Ser166Asn | |
| ENST00000379954.5:c.368-1623G>A | ENSP00000369287.1:n.368-1623G>A | |
| ENST00000379959.7:c.497G>A | ENSP00000369293.3:p.Ser166Asn | |
| ENST00000447847.1:c.280-2065G>A | ||
| NM_000417.2:c.497G>A , LRG_73t1:c.497G>A | NP_000408.1:p.Ser166Asn | |
| NM_001308242.1:c.368-1623G>A | NP_001295171.1:n.368-1623G>A | |
| NM_001308243.1:c.368-2065G>A | NP_001295172.1:n.368-2065G>A | |
| NM_000417.3:c.497G>A MANE Select | NP_000408.1:p.Ser166Asn | |
| NM_001308242.2:c.368-1623G>A | NP_001295171.1:n.368-1623G>A | |
| NM_001308243.2:c.368-2065G>A | NP_001295172.1:n.368-2065G>A |