Revel Score:
ENST00000409009
0.010
ENST00000264448
0.010
ENST00000377715
0.010
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00023412 (AMR)
Genomes Max Group AF
0.00010182 (NFE)
Exomes Max Group AF
0.00031419 (AMR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73449192A>G , CM000664.2:g.73449192A>G | GRCh38 |
| NC_000002.11:g.73676319A>G , CM000664.1:g.73676319A>G | GRCh37 |
| NC_000002.10:g.73529827A>G | NCBI36 |
| NG_011690.1:g.68440A>G , LRG_741:g.68440A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.2284A>G | ENSP00000507671.1:p.Ile762Val | |
| ENST00000682801.1:c.2284A>G | ENSP00000507862.1:p.Ile762Val | |
| ENST00000682859.1:c.2284A>G | ENSP00000508222.1:p.Ile762Val | |
| ENST00000683791.1:c.685+16901A>G | ||
| ENST00000684548.1:c.2284A>G | ENSP00000507421.1:p.Ile762Val | |
| ENST00000613296.6:c.2665A>G MANE Select | ENSP00000482968.1:p.Ile889Val | |
| ENST00000484298.5:c.2539A>G | ENSP00000478155.1:p.Ile847Val | |
| ENST00000613296.4:c.2665A>G | ENSP00000482968.1:p.Ile889Val | |
| ENST00000614410.4:c.2665A>G | ENSP00000479094.1:p.Ile889Val | |
| NM_015120.4:c.2668A>G , LRG_741t1:c.2668A>G | NP_055935.4:p.Ile890Val | |
| NM_001378454.1:c.2665A>G MANE Select | NP_001365383.1:p.Ile889Val |