Revel Score:
ENST00000449981
0.138
ENST00000327475 (MANE Select)
0.138
ENST00000359357
0.138
ENST00000441566
0.138
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0021677 (MID)
Genomes Max Group AF
0.00017082 (NFE)
Exomes Max Group AF
0.00229352 (MID)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.38906336A>G , CM000668.2:g.38906336A>G | GRCh38 |
| NC_000006.11:g.38874112A>G , CM000668.1:g.38874112A>G | GRCh37 |
| NC_000006.10:g.38982090A>G | NCBI36 |
| NG_041805.1:g.195996A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327475.11:c.9277A>G MANE Select | ENSP00000333363.7:p.Ile3093Val | |
| ENST00000327475.10:c.9277A>G | ENSP00000333363.7:p.Ile3093Val | |
| ENST00000359357.7:c.8626A>G | ENSP00000352312.3:p.Ile2876Val | |
| ENST00000449981.6:c.9277A>G | ENSP00000415331.2:p.Ile3093Val | |
| NM_001206927.1:c.9277A>G | NP_001193856.1:p.Ile3093Val | |
| XM_011514318.1:c.9214A>G | XP_011512620.1:p.Ile3072Val | |
| XM_011514319.1:c.9169A>G | XP_011512621.1:p.Ile3057Val | |
| XM_011514320.1:c.9040A>G | XP_011512622.1:p.Ile3014Val | |
| XM_011514321.1:c.8626A>G | XP_011512623.1:p.Ile2876Val | |
| XR_926078.1:n.9394A>G | ||
| NM_001371.3:c.8626A>G | NP_001362.2:p.Ile2876Val | |
| XM_011514318.2:c.9214A>G | XP_011512620.1:p.Ile3072Val | |
| XM_011514319.2:c.9169A>G | XP_011512621.1:p.Ile3057Val | |
| XM_011514320.2:c.9040A>G | XP_011512622.1:p.Ile3014Val | |
| XM_017010325.1:c.9277A>G | XP_016865814.1:p.Ile3093Val | |
| XM_017010326.1:c.9277A>G | XP_016865815.1:p.Ile3093Val | |
| XR_926078.2:n.9397A>G | ||
| NM_001206927.2:c.9277A>G MANE Select | NP_001193856.1:p.Ile3093Val | |
| NM_001371.4:c.8626A>G | NP_001362.2:p.Ile2876Val |