Revel Score:
ENST00000409009
0.040
ENST00000264448
0.040
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001883 (NFE)
Genomes Max Group AF
0.00004764 (NFE)
Exomes Max Group AF
0.0000146 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73490375T>G , CM000664.2:g.73490375T>G | GRCh38 |
| NC_000002.11:g.73717502T>G , CM000664.1:g.73717502T>G | GRCh37 |
| NC_000002.10:g.73571010T>G | NCBI36 |
| NG_011690.1:g.109623T>G , LRG_741:g.109623T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.8035T>G | ENSP00000507671.1:p.Phe2679Val | |
| ENST00000682801.1:c.8035T>G | ENSP00000507862.1:p.Phe2679Val | |
| ENST00000682859.1:c.8035T>G | ENSP00000508222.1:p.Phe2679Val | |
| ENST00000683791.1:c.1427T>G | ||
| ENST00000684460.1:c.5487T>G | ||
| ENST00000684548.1:c.8035T>G | ENSP00000507421.1:p.Phe2679Val | |
| ENST00000684590.1:c.2482T>G | ENSP00000507376.1:p.Phe828Val | |
| ENST00000684656.1:c.5487T>G | ||
| ENST00000613296.6:c.8416T>G MANE Select | ENSP00000482968.1:p.Phe2806Val | |
| ENST00000651434.1:c.896-29400T>G | ||
| ENST00000423048.5:c.3030+217T>G | ENSP00000399833.1:n.3030+217T>G | |
| ENST00000484298.5:c.8290T>G | ENSP00000478155.1:p.Phe2764Val | |
| ENST00000613296.4:c.8416T>G | ENSP00000482968.1:p.Phe2806Val | |
| ENST00000614410.4:c.8416T>G | ENSP00000479094.1:p.Phe2806Val | |
| ENST00000620466.4:n.2219T>G | ||
| NM_015120.4:c.8419T>G , LRG_741t1:c.8419T>G | NP_055935.4:p.Phe2807Val | |
| NM_001378454.1:c.8416T>G MANE Select | NP_001365383.1:p.Phe2806Val |