Revel Score:
ENST00000370642
0.769
ENST00000370647
0.648
ENST00000370646 (MANE Select)
0.648
ENST00000555577
0.648
ENST00000370649
0.648
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002074 (NFE)
Exomes Max Group AF
0.00002116 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.97601889G>T , CM000672.2:g.97601889G>T | GRCh38 |
| NC_000010.10:g.99361646G>T , CM000672.1:g.99361646G>T | GRCh37 |
| NC_000010.9:g.99351636G>T | NCBI36 |
| NG_027922.1:g.22545G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370646.9:c.733G>T MANE Select | ENSP00000359680.4:p.Val245Phe | |
| ENST00000370642.4:c.143G>T | ||
| ENST00000370646.8:c.733G>T | ENSP00000359680.4:p.Val245Phe | |
| ENST00000370647.8:c.244G>T | ENSP00000359681.4:p.Val82Phe | |
| ENST00000370649.3:c.244G>T | ENSP00000359683.3:p.Val82Phe | |
| NM_001134670.1:c.244G>T | NP_001128142.1:p.Val82Phe | |
| NM_138413.3:c.733G>T | NP_612422.2:p.Val245Phe | |
| NM_138413.4:c.733G>T MANE Select | NP_612422.2:p.Val245Phe | |
| NM_001134670.2:c.244G>T | NP_001128142.1:p.Val82Phe |