Revel Score:
ENST00000314845
0.046
ENST00000533727
0.046
ENST00000534300
0.046
ENST00000426438
0.046
ENST00000298834
0.046
ENST00000314823
0.046
ENST00000458649
0.046
ENST00000528950
0.046
gnomAD v2:
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46542941T>C , CM000673.2:g.46542941T>C | GRCh38 |
| NC_000011.9:g.46564491T>C , CM000673.1:g.46564491T>C | GRCh37 |
| NC_000011.8:g.46521067T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683756.1:c.1076A>G MANE Select | ENSP00000508322.1:p.Gln359Arg | |
| ENST00000314845.7:c.806A>G | ENSP00000318313.3:p.Gln269Arg | |
| ENST00000458649.6:c.1076A>G | ENSP00000415327.2:p.Gln359Arg | |
| ENST00000528950.1:c.1076A>G | ENSP00000433945.1:p.Gln359Arg | |
| ENST00000533727.5:c.806A>G | ENSP00000433372.1:p.Gln269Arg | |
| ENST00000534300.5:c.1076A>G | ENSP00000431926.1:p.Gln359Arg | |
| NM_001267782.1:c.806A>G | NP_001254711.1:p.Gln269Arg | |
| NM_001267783.1:c.806A>G | NP_001254712.1:p.Gln269Arg | |
| NM_001300731.1:c.1076A>G | NP_001287660.1:p.Gln359Arg | |
| NM_017749.3:c.806A>G | NP_060219.2:p.Gln269Arg | |
| XM_005253009.2:c.1076A>G | XP_005253066.1:p.Gln359Arg | |
| XM_005253011.2:c.1076A>G | XP_005253068.1:p.Gln359Arg | |
| XM_005253014.2:c.806A>G | XP_005253071.1:p.Gln269Arg | |
| XM_006718259.1:c.1076A>G | XP_006718322.1:p.Gln359Arg | |
| XM_006718260.1:c.806A>G | XP_006718323.1:p.Gln269Arg | |
| XM_011520214.1:c.806A>G | XP_011518516.1:p.Gln269Arg | |
| XM_011520215.1:c.806A>G | XP_011518517.1:p.Gln269Arg | |
| XR_930878.1:n.1164A>G | ||
| XM_005253009.4:c.1076A>G | XP_005253066.1:p.Gln359Arg | |
| XM_005253011.4:c.1076A>G | XP_005253068.1:p.Gln359Arg | |
| XM_005253014.4:c.806A>G | XP_005253071.1:p.Gln269Arg | |
| XM_006718259.2:c.1076A>G | XP_006718322.1:p.Gln359Arg | |
| XM_006718260.3:c.806A>G | XP_006718323.1:p.Gln269Arg | |
| XM_024448605.1:c.1076A>G | XP_024304373.1:p.Gln359Arg | |
| XM_024448606.1:c.806A>G | XP_024304374.1:p.Gln269Arg | |
| XR_002957153.1:n.1154A>G | ||
| NM_001367468.1:c.1076A>G | NP_001354397.1:p.Gln359Arg | |
| NM_001367469.1:c.806A>G | NP_001354398.1:p.Gln269Arg | |
| NM_001367470.1:c.269A>G | NP_001354399.1:p.Gln90Arg | |
| NM_001367471.1:c.806A>G | NP_001354400.1:p.Gln269Arg | |
| NR_160027.1:n.1116A>G | ||
| NM_001267782.2:c.806A>G | NP_001254711.1:p.Gln269Arg | |
| NM_001267783.2:c.806A>G | NP_001254712.1:p.Gln269Arg | |
| NM_001300731.2:c.1076A>G | NP_001287660.1:p.Gln359Arg | |
| NM_001387011.1:c.1076A>G MANE Select | NP_001373940.1:p.Gln359Arg |