Revel Score:
ENST00000434810
0.709
ENST00000348295
0.786
ENST00000382578
0.786
ENST00000382563
0.786
ENST00000544772
0.786
ENST00000328354
0.786
ENST00000404276 (MANE Select)
0.786
ENST00000405598
0.786
ENST00000382580
0.786
ENST00000403642
0.786
ENST00000402731
0.786
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.28695786C>A , CM000684.2:g.28695786C>A | GRCh38 |
| NC_000022.10:g.29091774C>A , CM000684.1:g.29091774C>A | GRCh37 |
| NC_000022.9:g.27421774C>A | NCBI36 |
| NG_008150.1:g.51049G>T | |
| NG_008150.2:g.51081G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000711048.1:c.1009-544G>T | ENSP00000518557.1:n.1009-544G>T | |
| ENST00000402731.6:c.982G>T | ENSP00000384835.2:p.Val328Phe | |
| ENST00000404276.6:c.1183G>T MANE Select | ENSP00000385747.1:p.Val395Phe | |
| ENST00000425190.7:c.520G>T | ENSP00000390244.2:p.Val174Phe | |
| ENST00000464581.6:c.523G>T | ENSP00000483777.2:p.Val175Phe | |
| ENST00000648295.1:n.735G>T | ||
| ENST00000649563.1:c.520G>T | ENSP00000496928.1:p.Val174Phe | |
| ENST00000650281.1:c.1183G>T | ENSP00000497000.1:p.Val395Phe | |
| ENST00000328354.10:c.1183G>T | ENSP00000329178.6:p.Val395Phe | |
| ENST00000348295.7:c.1096G>T | ENSP00000329012.5:p.Val366Phe | |
| ENST00000382580.6:c.1312G>T | ENSP00000372023.2:p.Val438Phe | |
| ENST00000402731.5:c.1096G>T | ENSP00000384835.1:p.Val366Phe | |
| ENST00000403642.5:c.910G>T | ENSP00000384919.1:p.Val304Phe | |
| ENST00000404276.5:c.1183G>T | ENSP00000385747.1:p.Val395Phe | |
| ENST00000405598.5:c.1183G>T | ENSP00000386087.1:p.Val395Phe | |
| ENST00000416671.5:c.*673G>T | ENSP00000402225.1:n.*673G>T | |
| ENST00000417588.5:c.1092G>T | ENSP00000412901.1:n.1092G>T | |
| ENST00000433728.5:c.1121G>T | ENSP00000404400.1:n.1121G>T | |
| ENST00000434810.5:c.414G>T | ||
| ENST00000448511.5:c.1073G>T | ENSP00000404567.1:n.1073G>T | |
| ENST00000456369.5:c.263+4052G>T | ||
| NM_001005735.1:c.1312G>T | NP_001005735.1:p.Val438Phe | |
| NM_001257387.1:c.520G>T | NP_001244316.1:p.Val174Phe | |
| NM_007194.3:c.1183G>T | NP_009125.1:p.Val395Phe | |
| NM_145862.2:c.1096G>T | NP_665861.1:p.Val366Phe | |
| XM_006724114.2:c.703G>T | XP_006724177.1:p.Val235Phe | |
| XM_006724116.2:c.640G>T | XP_006724179.2:p.Val214Phe | |
| XM_011529839.1:c.1342G>T | XP_011528141.1:p.Val448Phe | |
| XM_011529840.1:c.1255G>T | XP_011528142.1:p.Val419Phe | |
| XM_011529841.1:c.1111G>T | XP_011528143.1:p.Val371Phe | |
| XM_011529842.1:c.1012G>T | XP_011528144.1:p.Val338Phe | |
| XM_011529843.1:c.982G>T | XP_011528145.1:p.Val328Phe | |
| XM_011529845.1:c.520G>T | XP_011528147.1:p.Val174Phe | |
| XR_937805.1:n.1342G>T | ||
| XR_937806.1:n.1250G>T | ||
| NM_001349956.1:c.982G>T | NP_001336885.1:p.Val328Phe | |
| NM_007194.4:c.1183G>T MANE Select | NP_009125.1:p.Val395Phe | |
| XM_006724114.3:c.736G>T | XP_006724177.2:p.Val246Phe | |
| XM_011529839.2:c.1342G>T | XP_011528141.1:p.Val448Phe | |
| XM_011529840.3:c.1255G>T | XP_011528142.1:p.Val419Phe | |
| XM_011529842.2:c.1012G>T | XP_011528144.1:p.Val338Phe | |
| XM_011529845.2:c.520G>T | XP_011528147.1:p.Val174Phe | |
| XM_017028560.1:c.1306G>T | XP_016884049.1:p.Val436Phe | |
| XM_017028561.2:c.520G>T | XP_016884050.1:p.Val174Phe | |
| XM_024452148.1:c.1213G>T | XP_024307916.1:p.Val405Phe | |
| XM_024452149.1:c.1126G>T | XP_024307917.1:p.Val376Phe | |
| XR_937805.2:n.1353G>T | ||
| XR_937806.2:n.1266G>T | ||
| NM_001005735.2:c.1312G>T | NP_001005735.1:p.Val438Phe | |
| NM_001257387.2:c.520G>T | NP_001244316.1:p.Val174Phe | |
| NM_001349956.2:c.982G>T | NP_001336885.1:p.Val328Phe |