Revel Score:
ENST00000450646
0.296
ENST00000360289
0.296
ENST00000448642
0.296
ENST00000421088
0.296
ENST00000404387
0.296
ENST00000436817
0.296
ENST00000298649
0.296
ENST00000359426 (MANE Select)
0.296
ENST00000405407
0.296
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002255 (AMR)
Genomes Max Group AF
0.00001171 (NFE)
Exomes Max Group AF
0.00001779 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.69359966A>G , CM000672.2:g.69359966A>G | GRCh38 |
| NC_000010.10:g.71119722A>G , CM000672.1:g.71119722A>G | GRCh37 |
| NC_000010.9:g.70789728A>G | NCBI36 |
| NG_012077.1:g.94967A>G , LRG_365:g.94967A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470050.2:c.296A>G | ENSP00000515580.1:p.His99Arg | |
| ENST00000703944.1:c.308A>G | ENSP00000515576.1:p.His103Arg | |
| ENST00000703945.1:c.212A>G | ENSP00000515578.1:p.His71Arg | |
| ENST00000703946.1:c.296A>G | ENSP00000515579.1:p.His99Arg | |
| ENST00000703947.1:c.296A>G | ENSP00000515581.1:p.His99Arg | |
| ENST00000703948.1:c.227-4817A>G | ENSP00000515582.1:n.227-4817A>G | |
| ENST00000703949.1:c.296A>G | ENSP00000515583.1:p.His99Arg | |
| ENST00000703950.1:c.296A>G | ENSP00000515584.1:p.His99Arg | |
| ENST00000703951.1:c.296A>G | ENSP00000515585.1:p.His99Arg | |
| ENST00000703952.1:c.296A>G | ENSP00000515586.1:p.His99Arg | |
| ENST00000703953.1:c.296A>G | ENSP00000515587.1:p.His99Arg | |
| ENST00000703954.1:c.296A>G | ENSP00000515588.1:p.His99Arg | |
| ENST00000703955.1:n.846A>G | ||
| ENST00000298649.8:c.293A>G | ENSP00000298649.3:p.His98Arg | |
| ENST00000359426.7:c.296A>G MANE Select | ENSP00000352398.6:p.His99Arg | |
| ENST00000436817.6:c.308A>G | ENSP00000415949.2:p.His103Arg | |
| ENST00000493591.6:c.*184A>G | ENSP00000494917.1:n.*184A>G | |
| ENST00000643399.2:c.308A>G MANE Plus Clinical | ENSP00000494664.1:p.His103Arg | |
| ENST00000298649.7:c.293A>G | ENSP00000298649.3:p.His98Arg | |
| ENST00000359426.6:c.296A>G | ENSP00000352398.6:p.His99Arg | |
| ENST00000360289.6:c.260A>G | ENSP00000353433.2:p.His87Arg | |
| ENST00000421088.5:c.260A>G | ENSP00000398316.1:p.His87Arg | |
| ENST00000436817.5:c.293A>G | ENSP00000415949.1:p.His98Arg | |
| ENST00000448642.6:c.308A>G | ENSP00000402103.3:p.His103Arg | |
| ENST00000450646.5:c.308A>G | ENSP00000409761.1:p.His103Arg | |
| ENST00000483077.5:n.700A>G | ||
| ENST00000493591.5:n.300A>G | ||
| ENST00000494253.1:n.522A>G | ||
| NM_000188.2:c.296A>G | NP_000179.2:p.His99Arg | |
| NM_033496.2:c.293A>G | NP_277031.1:p.His98Arg | |
| NM_033497.2:c.308A>G | NP_277032.1:p.His103Arg | |
| NM_033498.2:c.308A>G | NP_277033.1:p.His103Arg | |
| NM_033500.2:c.260A>G , LRG_365t1:c.260A>G | NP_277035.2:p.His87Arg | |
| XM_005269735.2:c.425A>G | XP_005269792.1:p.His142Arg | |
| XM_005269736.1:c.308A>G | XP_005269793.1:p.His103Arg | |
| XM_005269737.1:c.212A>G | XP_005269794.1:p.His71Arg | |
| XM_011539732.1:c.260A>G | XP_011538034.1:p.His87Arg | |
| XM_011539733.1:c.254A>G | XP_011538035.1:p.His85Arg | |
| XM_011539734.1:c.251A>G | XP_011538036.1:p.His84Arg | |
| NM_001322364.1:c.308A>G | NP_001309293.1:p.His103Arg | |
| NM_001322365.1:c.401A>G | NP_001309294.1:p.His134Arg | |
| NM_001322366.1:c.212A>G | NP_001309295.1:p.His71Arg | |
| NM_001322367.1:c.296A>G | NP_001309296.1:p.His99Arg | |
| NM_001358263.1:c.308A>G MANE Plus Clinical | NP_001345192.1:p.His103Arg | |
| XM_024447969.1:c.308A>G | XP_024303737.1:p.His103Arg | |
| NM_000188.3:c.296A>G MANE Select | NP_000179.2:p.His99Arg | |
| NM_001322364.2:c.308A>G | NP_001309293.1:p.His103Arg | |
| NM_001322365.2:c.401A>G | NP_001309294.1:p.His134Arg | |
| NM_033496.3:c.293A>G | NP_277031.1:p.His98Arg | |
| NM_033497.3:c.308A>G | NP_277032.1:p.His103Arg | |
| NM_033498.3:c.308A>G | NP_277033.1:p.His103Arg |