Revel Score:
ENST00000348295
0.077
ENST00000382578
0.077
ENST00000382565
0.077
ENST00000382563
0.077
ENST00000544772
0.077
ENST00000328354
0.077
ENST00000404276 (MANE Select)
0.077
ENST00000405598
0.077
ENST00000382580
0.077
ENST00000403642
0.077
ENST00000402731
0.077
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001773 (EAS)
Exomes Max Group AF
0.00002005 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.28689178G>A , CM000684.2:g.28689178G>A | GRCh38 |
| NC_000022.10:g.29085166G>A , CM000684.1:g.29085166G>A | GRCh37 |
| NC_000022.9:g.27415166G>A | NCBI36 |
| NG_008150.1:g.57657C>T | |
| NG_008150.2:g.57689C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000711048.1:c.*234C>T | ENSP00000518557.1:n.*234C>T | |
| ENST00000402731.6:c.1298C>T | ENSP00000384835.2:p.Ser433Phe | |
| ENST00000404276.6:c.1499C>T MANE Select | ENSP00000385747.1:p.Ser500Phe | |
| ENST00000425190.7:c.836C>T | ENSP00000390244.2:p.Ser279Phe | |
| ENST00000464581.6:c.839C>T | ENSP00000483777.2:p.Ser280Phe | |
| ENST00000648295.1:n.1051C>T | ||
| ENST00000649563.1:c.836C>T | ENSP00000496928.1:p.Ser279Phe | |
| ENST00000650281.1:c.1499C>T | ENSP00000497000.1:p.Ser500Phe | |
| ENST00000328354.10:c.1499C>T | ENSP00000329178.6:p.Ser500Phe | |
| ENST00000348295.7:c.1412C>T | ENSP00000329012.5:p.Ser471Phe | |
| ENST00000382580.6:c.1628C>T | ENSP00000372023.2:p.Ser543Phe | |
| ENST00000402731.5:c.1412C>T | ENSP00000384835.1:p.Ser471Phe | |
| ENST00000403642.5:c.1226C>T | ENSP00000384919.1:p.Ser409Phe | |
| ENST00000404276.5:c.1499C>T | ENSP00000385747.1:p.Ser500Phe | |
| ENST00000405598.5:c.1499C>T | ENSP00000386087.1:p.Ser500Phe | |
| ENST00000416671.5:c.*989C>T | ENSP00000402225.1:n.*989C>T | |
| ENST00000417588.5:c.1408C>T | ENSP00000412901.1:n.1408C>T | |
| ENST00000433728.5:c.1437C>T | ENSP00000404400.1:n.1437C>T | |
| ENST00000434810.5:c.697C>T | ||
| ENST00000448511.5:c.1389C>T | ENSP00000404567.1:n.1389C>T | |
| ENST00000456369.5:c.301C>T | ||
| ENST00000472807.1:n.233C>T | ||
| NM_001005735.1:c.1628C>T | NP_001005735.1:p.Ser543Phe | |
| NM_001257387.1:c.836C>T | NP_001244316.1:p.Ser279Phe | |
| NM_007194.3:c.1499C>T | NP_009125.1:p.Ser500Phe | |
| NM_145862.2:c.1412C>T | NP_665861.1:p.Ser471Phe | |
| XM_006724114.2:c.1019C>T | XP_006724177.1:p.Ser340Phe | |
| XM_006724116.2:c.956C>T | XP_006724179.2:p.Ser319Phe | |
| XM_011529839.1:c.1658C>T | XP_011528141.1:p.Ser553Phe | |
| XM_011529840.1:c.1571C>T | XP_011528142.1:p.Ser524Phe | |
| XM_011529841.1:c.1427C>T | XP_011528143.1:p.Ser476Phe | |
| XM_011529842.1:c.1328C>T | XP_011528144.1:p.Ser443Phe | |
| XM_011529843.1:c.1298C>T | XP_011528145.1:p.Ser433Phe | |
| XM_011529845.1:c.836C>T | XP_011528147.1:p.Ser279Phe | |
| XR_937805.1:n.1658C>T | ||
| NM_001349956.1:c.1298C>T | NP_001336885.1:p.Ser433Phe | |
| NM_007194.4:c.1499C>T MANE Select | NP_009125.1:p.Ser500Phe | |
| XM_006724114.3:c.1052C>T | XP_006724177.2:p.Ser351Phe | |
| XM_011529839.2:c.1658C>T | XP_011528141.1:p.Ser553Phe | |
| XM_011529840.3:c.1571C>T | XP_011528142.1:p.Ser524Phe | |
| XM_011529842.2:c.1328C>T | XP_011528144.1:p.Ser443Phe | |
| XM_011529845.2:c.836C>T | XP_011528147.1:p.Ser279Phe | |
| XM_017028560.1:c.1622C>T | XP_016884049.1:p.Ser541Phe | |
| XM_017028561.2:c.836C>T | XP_016884050.1:p.Ser279Phe | |
| XM_024452148.1:c.1529C>T | XP_024307916.1:p.Ser510Phe | |
| XM_024452149.1:c.1442C>T | XP_024307917.1:p.Ser481Phe | |
| XR_937805.2:n.1669C>T | ||
| NM_001005735.2:c.1628C>T | NP_001005735.1:p.Ser543Phe | |
| NM_001257387.2:c.836C>T | NP_001244316.1:p.Ser279Phe | |
| NM_001349956.2:c.1298C>T | NP_001336885.1:p.Ser433Phe |