Revel Score:
ENST00000348295
0.142
ENST00000382578
0.142
ENST00000382565
0.142
ENST00000382563
0.142
ENST00000544772
0.142
ENST00000328354
0.142
ENST00000404276 (MANE Select)
0.142
ENST00000405598
0.142
ENST00000382580
0.142
ENST00000403642
0.142
ENST00000402731
0.142
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00326379 (SAS)
Genomes Max Group AF
0.00097158 (SAS)
Exomes Max Group AF
0.0033474 (SAS)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.28689176C>T , CM000684.2:g.28689176C>T | GRCh38 |
| NC_000022.10:g.29085164C>T , CM000684.1:g.29085164C>T | GRCh37 |
| NC_000022.9:g.27415164C>T | NCBI36 |
| NG_008150.1:g.57659G>A | |
| NG_008150.2:g.57691G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000711048.1:c.*236G>A | ENSP00000518557.1:n.*236G>A | |
| ENST00000402731.6:c.1300G>A | ENSP00000384835.2:p.Glu434Lys | |
| ENST00000404276.6:c.1501G>A MANE Select | ENSP00000385747.1:p.Glu501Lys | |
| ENST00000425190.7:c.838G>A | ENSP00000390244.2:p.Glu280Lys | |
| ENST00000464581.6:c.841G>A | ENSP00000483777.2:p.Glu281Lys | |
| ENST00000648295.1:n.1053G>A | ||
| ENST00000649563.1:c.838G>A | ENSP00000496928.1:p.Glu280Lys | |
| ENST00000650281.1:c.1501G>A | ENSP00000497000.1:p.Glu501Lys | |
| ENST00000328354.10:c.1501G>A | ENSP00000329178.6:p.Glu501Lys | |
| ENST00000348295.7:c.1414G>A | ENSP00000329012.5:p.Glu472Lys | |
| ENST00000382580.6:c.1630G>A | ENSP00000372023.2:p.Glu544Lys | |
| ENST00000402731.5:c.1414G>A | ENSP00000384835.1:p.Glu472Lys | |
| ENST00000403642.5:c.1228G>A | ENSP00000384919.1:p.Glu410Lys | |
| ENST00000404276.5:c.1501G>A | ENSP00000385747.1:p.Glu501Lys | |
| ENST00000405598.5:c.1501G>A | ENSP00000386087.1:p.Glu501Lys | |
| ENST00000416671.5:c.*991G>A | ENSP00000402225.1:n.*991G>A | |
| ENST00000417588.5:c.1410G>A | ENSP00000412901.1:n.1410G>A | |
| ENST00000433728.5:c.1439G>A | ENSP00000404400.1:n.1439G>A | |
| ENST00000434810.5:c.699G>A | ||
| ENST00000448511.5:c.1391G>A | ENSP00000404567.1:n.1391G>A | |
| ENST00000456369.5:c.303G>A | ||
| ENST00000472807.1:n.235G>A | ||
| NM_001005735.1:c.1630G>A | NP_001005735.1:p.Glu544Lys | |
| NM_001257387.1:c.838G>A | NP_001244316.1:p.Glu280Lys | |
| NM_007194.3:c.1501G>A | NP_009125.1:p.Glu501Lys | |
| NM_145862.2:c.1414G>A | NP_665861.1:p.Glu472Lys | |
| XM_006724114.2:c.1021G>A | XP_006724177.1:p.Glu341Lys | |
| XM_006724116.2:c.958G>A | XP_006724179.2:p.Glu320Lys | |
| XM_011529839.1:c.1660G>A | XP_011528141.1:p.Glu554Lys | |
| XM_011529840.1:c.1573G>A | XP_011528142.1:p.Glu525Lys | |
| XM_011529841.1:c.1429G>A | XP_011528143.1:p.Glu477Lys | |
| XM_011529842.1:c.1330G>A | XP_011528144.1:p.Glu444Lys | |
| XM_011529843.1:c.1300G>A | XP_011528145.1:p.Glu434Lys | |
| XM_011529845.1:c.838G>A | XP_011528147.1:p.Glu280Lys | |
| XR_937805.1:n.1660G>A | ||
| NM_001349956.1:c.1300G>A | NP_001336885.1:p.Glu434Lys | |
| NM_007194.4:c.1501G>A MANE Select | NP_009125.1:p.Glu501Lys | |
| XM_006724114.3:c.1054G>A | XP_006724177.2:p.Glu352Lys | |
| XM_011529839.2:c.1660G>A | XP_011528141.1:p.Glu554Lys | |
| XM_011529840.3:c.1573G>A | XP_011528142.1:p.Glu525Lys | |
| XM_011529842.2:c.1330G>A | XP_011528144.1:p.Glu444Lys | |
| XM_011529845.2:c.838G>A | XP_011528147.1:p.Glu280Lys | |
| XM_017028560.1:c.1624G>A | XP_016884049.1:p.Glu542Lys | |
| XM_017028561.2:c.838G>A | XP_016884050.1:p.Glu280Lys | |
| XM_024452148.1:c.1531G>A | XP_024307916.1:p.Glu511Lys | |
| XM_024452149.1:c.1444G>A | XP_024307917.1:p.Glu482Lys | |
| XR_937805.2:n.1671G>A | ||
| NM_001005735.2:c.1630G>A | NP_001005735.1:p.Glu544Lys | |
| NM_001257387.2:c.838G>A | NP_001244316.1:p.Glu280Lys | |
| NM_001349956.2:c.1300G>A | NP_001336885.1:p.Glu434Lys |