Revel Score:
ENST00000218099 (MANE Select)
0.215
ENST00000394090
0.215
gnomAD v4:
Joint Max Group AF
0.00001358 (NFE)
Exomes Max Group AF
0.00001444 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.139548467A>G , CM000685.2:g.139548467A>G | GRCh38 |
| NC_000023.10:g.138630626A>G , CM000685.1:g.138630626A>G | GRCh37 |
| NC_000023.9:g.138458292A>G | NCBI36 |
| NG_007994.1:g.22732A>G , LRG_556:g.22732A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218099.7:c.496A>G MANE Select | ENSP00000218099.2:p.Asn166Asp | |
| ENST00000643157.1:n.1163A>G | ||
| ENST00000218099.6:c.496A>G | ENSP00000218099.2:p.Asn166Asp | |
| ENST00000394090.2:c.382A>G | ENSP00000377650.2:p.Asn128Asp | |
| NM_000133.3:c.496A>G , LRG_556t1:c.496A>G | NP_000124.1:p.Asn166Asp | |
| NM_001313913.1:c.382A>G | NP_001300842.1:p.Asn128Asp | |
| XM_005262397.3:c.392-2595A>G | XP_005262454.1:n.392-2595A>G | |
| XM_005262397.4:c.392-2595A>G | XP_005262454.1:n.392-2595A>G | |
| NM_000133.4:c.496A>G MANE Select | NP_000124.1:p.Asn166Asp | |
| NM_001313913.2:c.382A>G | NP_001300842.1:p.Asn128Asp |