Revel Score:
ENST00000383772
0.971
ENST00000404969
0.971
ENST00000538226
0.971
ENST00000437042
0.971
ENST00000330688 (MANE Select)
0.971
ENST00000458646
0.971
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.25593551T>G , CM000665.2:g.25593551T>G | GRCh38 |
| NC_000003.11:g.25635042T>G , CM000665.1:g.25635042T>G | GRCh37 |
| NC_000003.10:g.25610046T>G | NCBI36 |
| NG_029013.1:g.170289T>G | |
| NG_029013.3:g.769229T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000383772.9:c.856T>G | ENSP00000373282.5:p.Phe286Val | |
| ENST00000437042.7:c.499T>G | ENSP00000398840.2:p.Phe167Val | |
| ENST00000458646.2:c.499T>G | ENSP00000391391.1:p.Phe167Val | |
| ENST00000462272.6:n.780T>G | ||
| ENST00000479097.6:c.*224T>G | ENSP00000508755.1:n.*224T>G | |
| ENST00000480001.6:c.787-969T>G | ENSP00000510647.1:n.787-969T>G | |
| ENST00000685523.1:c.*671T>G | ENSP00000508765.1:n.*671T>G | |
| ENST00000686715.1:c.856T>G | ENSP00000510539.1:p.Phe286Val | |
| ENST00000687083.1:c.787-2869T>G | ENSP00000509681.1:n.787-2869T>G | |
| ENST00000687353.1:c.856T>G | ENSP00000508588.1:p.Phe286Val | |
| ENST00000687676.1:c.856T>G | ENSP00000510313.1:p.Phe286Val | |
| ENST00000688892.1:c.856T>G | ENSP00000510650.1:p.Phe286Val | |
| ENST00000689700.1:c.581T>G | ENSP00000510200.1:n.581T>G | |
| ENST00000690398.1:c.*450T>G | ENSP00000510044.1:n.*450T>G | |
| ENST00000691580.1:c.664T>G | ||
| ENST00000691912.1:c.787-90T>G | ENSP00000510520.1:n.787-90T>G | |
| ENST00000693261.1:c.499T>G | ENSP00000508421.1:p.Phe167Val | |
| ENST00000693580.1:c.304-969T>G | ENSP00000510405.1:n.304-969T>G | |
| ENST00000330688.9:c.835T>G MANE Select | ENSP00000332296.4:p.Phe279Val | |
| ENST00000330688.8:c.835T>G | ENSP00000332296.4:p.Phe279Val | |
| ENST00000383772.8:c.856T>G | ENSP00000373282.4:p.Phe286Val | |
| ENST00000437042.6:c.499T>G | ENSP00000398840.2:p.Phe167Val | |
| ENST00000458646.1:c.499T>G | ENSP00000391391.1:p.Phe167Val | |
| ENST00000462272.5:n.803-90T>G | ||
| ENST00000479097.5:n.690T>G | ||
| ENST00000480001.5:n.803-969T>G | ||
| NM_000965.4:c.835T>G | NP_000956.2:p.Phe279Val | |
| NM_001290216.1:c.856T>G | NP_001277145.1:p.Phe286Val | |
| NM_001290217.1:c.499T>G | NP_001277146.1:p.Phe167Val | |
| NM_001290266.1:c.688T>G | NP_001277195.1:p.Phe230Val | |
| NM_001290276.1:c.499T>G | NP_001277205.1:p.Phe167Val | |
| NM_001290277.1:c.787-90T>G | NP_001277206.1:n.787-90T>G | |
| NM_001290300.1:c.706T>G | NP_001277229.1:p.Phe236Val | |
| NM_016152.3:c.499T>G | NP_057236.1:p.Phe167Val | |
| NR_110892.1:n.1143T>G | ||
| NR_110893.1:n.1256-969T>G | ||
| NM_001290216.2:c.856T>G | NP_001277145.1:p.Phe286Val | |
| NM_000965.5:c.835T>G MANE Select | NP_000956.2:p.Phe279Val | |
| NM_001290216.3:c.856T>G | NP_001277145.1:p.Phe286Val | |
| NM_001290217.2:c.499T>G | NP_001277146.1:p.Phe167Val | |
| NM_001290266.2:c.688T>G | NP_001277195.1:p.Phe230Val | |
| NM_001290276.2:c.499T>G | NP_001277205.1:p.Phe167Val | |
| NM_001290300.2:c.706T>G | NP_001277229.1:p.Phe236Val | |
| NM_016152.4:c.499T>G | NP_057236.1:p.Phe167Val | |
| NR_110892.2:n.1143T>G | ||
| NR_110893.2:n.1256-969T>G |