Revel Score:
ENST00000389653
0.365
ENST00000340083 (MANE Select)
0.365
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00029817 (AFR)
Genomes Max Group AF
0.0003189 (AFR)
Exomes Max Group AF
0.00018339 (AFR)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.3492767C>G , CM000666.2:g.3492767C>G | GRCh38 |
| NC_000004.11:g.3494494C>G , CM000666.1:g.3494494C>G | GRCh37 |
| NC_000004.10:g.3464292C>G | NCBI36 |
| NG_013072.2:g.34462C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340083.6:c.781C>G MANE Select | ENSP00000344432.5:p.Arg261Gly | |
| ENST00000643608.1:c.349C>G | ENSP00000495701.1:p.Arg117Gly | |
| ENST00000340083.5:c.781C>G | ENSP00000344432.5:p.Arg261Gly | |
| ENST00000503688.5:n.414C>G | ||
| ENST00000507039.5:c.*2C>G | ENSP00000423614.1:n.*2C>G | |
| ENST00000513995.1:n.439C>G | ||
| ENST00000515886.5:n.549C>G | ||
| NM_001164673.1:c.*2C>G | NP_001158145.1:n.*2C>G | |
| NM_001256896.1:c.-150C>G | NP_001243825.1:n.-150C>G | |
| NM_001301071.1:c.781C>G | NP_001288000.1:p.Arg261Gly | |
| NM_173660.4:c.781C>G | NP_775931.3:p.Arg261Gly | |
| XM_011513435.1:c.781C>G | XP_011511737.1:p.Arg261Gly | |
| XM_011513436.1:c.781C>G | XP_011511738.1:p.Arg261Gly | |
| XM_011513437.1:c.367C>G | XP_011511739.1:p.Arg123Gly | |
| NM_001363811.1:c.349C>G | NP_001350740.1:p.Arg117Gly | |
| XM_011513435.2:c.781C>G | XP_011511737.1:p.Arg261Gly | |
| XM_011513437.2:c.367C>G | XP_011511739.1:p.Arg123Gly | |
| NM_173660.5:c.781C>G MANE Select | NP_775931.3:p.Arg261Gly | |
| NM_001164673.2:c.*2C>G | NP_001158145.1:n.*2C>G | |
| NM_001301071.2:c.781C>G | NP_001288000.1:p.Arg261Gly | |
| NM_001363811.2:c.349C>G | NP_001350740.1:p.Arg117Gly | |
| NM_001256896.2:c.-150C>G | NP_001243825.1:n.-150C>G |