Revel Score:
ENST00000406381
0.325
ENST00000541774
0.325
ENST00000445658
0.325
ENST00000269571 (MANE Select)
0.325
ENST00000540147
0.325
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00990361 (NFE)
Genomes Max Group AF
0.0077827 (NFE)
Exomes Max Group AF
0.0100018 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39723332A>G , CM000679.2:g.39723332A>G | GRCh38 |
| NC_000017.10:g.37879585A>G , CM000679.1:g.37879585A>G | GRCh37 |
| NC_000017.9:g.35133111A>G | NCBI36 |
| NG_007503.1:g.40193A>G , LRG_724:g.40193A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269571.10:c.1960A>G MANE Select | ENSP00000269571.4:p.Ile654Val | |
| ENST00000269571.9:c.1960A>G | ENSP00000269571.4:p.Ile654Val | |
| ENST00000406381.6:c.1870A>G | ENSP00000385185.2:p.Ile624Val | |
| ENST00000445658.6:c.1132A>G | ENSP00000404047.2:p.Ile378Val | |
| ENST00000541774.5:c.1915A>G | ENSP00000446466.1:p.Ile639Val | |
| ENST00000578373.5:c.*1750A>G | ENSP00000463427.1:n.*1750A>G | |
| ENST00000578630.1:n.569A>G | ||
| ENST00000580074.1:c.66A>G | ||
| ENST00000582818.5:c.278A>G | ||
| ENST00000583038.5:n.3094A>G | ||
| ENST00000584450.5:c.1960A>G | ENSP00000463714.1:p.Ile654Val | |
| ENST00000584601.5:c.1870A>G | ENSP00000462438.1:p.Ile624Val | |
| NM_001005862.2:c.1870A>G , LRG_724t1:c.1870A>G | NP_001005862.1:p.Ile624Val | |
| NM_001289936.1:c.1915A>G , LRG_724t4:c.1915A>G | NP_001276865.1:p.Ile639Val | |
| NM_001289937.1:c.1960A>G | NP_001276866.1:p.Ile654Val | |
| NM_004448.3:c.1960A>G , LRG_724t2:c.1960A>G | NP_004439.2:p.Ile654Val | |
| NR_110535.1:n.2284A>G | ||
| XM_024450641.1:c.2098A>G | XP_024306409.1:p.Ile700Val | |
| XM_024450642.1:c.2053A>G | XP_024306410.1:p.Ile685Val | |
| XM_024450643.1:c.2008A>G | XP_024306411.1:p.Ile670Val | |
| NM_001005862.3:c.1870A>G | NP_001005862.1:p.Ile624Val | |
| NM_001289936.2:c.1915A>G | NP_001276865.1:p.Ile639Val | |
| NM_001289937.2:c.1960A>G | NP_001276866.1:p.Ile654Val | |
| NM_001382782.1:c.1870A>G | NP_001369711.1:p.Ile624Val | |
| NM_001382783.1:c.1870A>G | NP_001369712.1:p.Ile624Val | |
| NM_001382784.1:c.2077A>G | NP_001369713.1:p.Ile693Val | |
| NM_001382785.1:c.2062A>G | NP_001369714.1:p.Ile688Val | |
| NM_001382786.1:c.2077A>G | NP_001369715.1:p.Ile693Val | |
| NM_001382787.1:c.2035A>G | NP_001369716.1:p.Ile679Val | |
| NM_001382788.1:c.1990A>G | NP_001369717.1:p.Ile664Val | |
| NM_001382789.1:c.1981A>G | NP_001369718.1:p.Ile661Val | |
| NM_001382790.1:c.1957A>G | NP_001369719.1:p.Ile653Val | |
| NM_001382791.1:c.1951A>G | NP_001369720.1:p.Ile651Val | |
| NM_001382792.1:c.1960A>G | NP_001369721.1:p.Ile654Val | |
| NM_001382793.1:c.1960A>G | NP_001369722.1:p.Ile654Val | |
| NM_001382794.1:c.1960A>G | NP_001369723.1:p.Ile654Val | |
| NM_001382795.1:c.1912A>G | NP_001369724.1:p.Ile638Val | |
| NM_001382796.1:c.1960A>G | NP_001369725.1:p.Ile654Val | |
| NM_001382797.1:c.1960A>G | NP_001369726.1:p.Ile654Val | |
| NM_001382798.1:c.1960A>G | NP_001369727.1:p.Ile654Val | |
| NM_001382799.1:c.1780A>G | NP_001369728.1:p.Ile594Val | |
| NM_001382800.1:c.1960A>G | NP_001369729.1:p.Ile654Val | |
| NM_001382801.1:c.1912A>G | NP_001369730.1:p.Ile638Val | |
| NM_001382802.1:c.1702A>G | NP_001369731.1:p.Ile568Val | |
| NM_001382803.1:c.1960A>G | NP_001369732.1:p.Ile654Val | |
| NM_001382804.1:c.1132A>G | NP_001369733.1:p.Ile378Val | |
| NM_001382805.1:c.1960A>G | NP_001369734.1:p.Ile654Val | |
| NM_001382806.1:c.1223-632A>G | NP_001369735.1:n.1223-632A>G | |
| NM_004448.4:c.1960A>G MANE Select | NP_004439.2:p.Ile654Val | |
| NR_110535.2:n.2198A>G |