Revel Score:
ENST00000324288 (MANE Select)
0.064
ENST00000381835
0.064
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.99828219 (NFE)
Genomes Max Group AF
0.99288169 (NFE)
Exomes Max Group AF
0.99827415 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.10909070A>G , CM000678.2:g.10909070A>G | GRCh38 |
| NC_000016.9:g.11002927A>G , CM000678.1:g.11002927A>G | GRCh37 |
| NC_000016.8:g.10910428A>G | NCBI36 |
| NG_009628.1:g.36873A>G , LRG_49:g.36873A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324288.14:c.2699A>G MANE Select | ENSP00000316328.8:p.Gln900Arg | |
| ENST00000324288.12:c.2699A>G | ENSP00000316328.8:p.Gln900Arg | |
| ENST00000381835.9:c.947A>G | ENSP00000371257.5:p.Gln316Arg | |
| ENST00000537380.1:n.1007-1118A>G | ||
| ENST00000570546.5:n.3699A>G | ||
| ENST00000618207.4:c.1007-1118A>G | ENSP00000484761.1:n.1007-1118A>G | |
| ENST00000618327.4:c.2702A>G | ENSP00000485010.1:p.Gln901Arg | |
| NM_000246.3:c.2699A>G , LRG_49t1:c.2699A>G | NP_000237.2:p.Gln900Arg | |
| NM_001286402.1:c.2702A>G | NP_001273331.1:p.Gln901Arg | |
| NM_001286403.1:c.947A>G | NP_001273332.1:p.Gln316Arg | |
| NR_104444.1:n.1140-1118A>G | ||
| XM_006720880.2:c.2996A>G | XP_006720943.2:p.Gln999Arg | |
| XM_011522484.1:c.2996A>G | XP_011520786.1:p.Gln999Arg | |
| XM_011522485.1:c.2996A>G | XP_011520787.1:p.Gln999Arg | |
| XM_011522486.1:c.2996A>G | XP_011520788.1:p.Gln999Arg | |
| XM_011522487.1:c.2750A>G | XP_011520789.1:p.Gln917Arg | |
| XM_011522488.1:c.2747A>G | XP_011520790.1:p.Gln916Arg | |
| XM_011522489.1:c.2747A>G | XP_011520791.1:p.Gln916Arg | |
| XM_011522490.1:c.2744A>G | XP_011520792.1:p.Gln915Arg | |
| XM_011522491.1:c.2996A>G | XP_011520793.1:p.Gln999Arg | |
| XM_011522492.1:c.2702A>G | XP_011520794.1:p.Gln901Arg | |
| XM_011522493.1:c.2699A>G | XP_011520795.1:p.Gln900Arg | |
| XM_011522494.1:c.2630A>G | XP_011520796.1:p.Gln877Arg | |
| XM_011522495.1:c.2555A>G | XP_011520797.1:p.Gln852Arg | |
| XM_011522496.1:c.2552A>G | XP_011520798.1:p.Gln851Arg | |
| XR_932841.1:n.3011A>G | ||
| XR_932842.1:n.3011A>G | ||
| XR_932843.1:n.3011A>G | ||
| XR_932846.1:n.3057A>G | ||
| XR_932847.1:n.3057A>G | ||
| XR_932848.1:n.1097A>G | ||
| XM_006720880.3:c.2996A>G | XP_006720943.2:p.Gln999Arg | |
| XM_011522484.3:c.2996A>G | XP_011520786.1:p.Gln999Arg | |
| XM_011522485.2:c.2996A>G | XP_011520787.1:p.Gln999Arg | |
| XM_011522486.2:c.2996A>G | XP_011520788.1:p.Gln999Arg | |
| XM_011522487.2:c.2750A>G | XP_011520789.1:p.Gln917Arg | |
| XM_011522488.2:c.2747A>G | XP_011520790.1:p.Gln916Arg | |
| XM_011522489.2:c.2747A>G | XP_011520791.1:p.Gln916Arg | |
| XM_011522490.2:c.2744A>G | XP_011520792.1:p.Gln915Arg | |
| XM_011522491.2:c.2996A>G | XP_011520793.1:p.Gln999Arg | |
| XM_011522492.2:c.2702A>G | XP_011520794.1:p.Gln901Arg | |
| XM_011522493.2:c.2699A>G | XP_011520795.1:p.Gln900Arg | |
| XM_011522494.2:c.2630A>G | XP_011520796.1:p.Gln877Arg | |
| XM_011522495.2:c.2555A>G | XP_011520797.1:p.Gln852Arg | |
| XM_011522496.2:c.2552A>G | XP_011520798.1:p.Gln851Arg | |
| XM_024450280.1:c.2942A>G | XP_024306048.1:p.Gln981Arg | |
| XM_024450281.1:c.2795A>G | XP_024306049.1:p.Gln932Arg | |
| XR_001751904.1:n.3061A>G | ||
| XR_932841.3:n.3013A>G | ||
| XR_932842.2:n.3013A>G | ||
| XR_932846.3:n.3061A>G | ||
| XR_932847.3:n.3061A>G | ||
| NM_001286403.2:c.947A>G | NP_001273332.1:p.Gln316Arg | |
| NR_104444.2:n.1136-1118A>G | ||
| NM_000246.4:c.2699A>G MANE Select | NP_000237.2:p.Gln900Arg | |
| NM_001379330.1:c.2555A>G | NP_001366259.1:p.Gln852Arg | |
| NM_001379331.1:c.2552A>G | NP_001366260.1:p.Gln851Arg | |
| NM_001379332.1:c.2702A>G | NP_001366261.1:p.Gln901Arg | |
| NM_001379333.1:c.2699A>G | NP_001366262.1:p.Gln900Arg | |
| NM_001379334.1:c.2630A>G | NP_001366263.1:p.Gln877Arg |