Revel Score:
ENST00000441037
0.308
ENST00000421325
0.308
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00005436 (AMR)
Genomes Max Group AF
0.00005287 (AMR)
Exomes Max Group AF
0.00002986 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.86247740A>G , CM000677.2:g.86247740A>G | GRCh38 |
| NC_000015.9:g.86790971A>G , CM000677.1:g.86790971A>G | GRCh37 |
| NC_000015.8:g.84591975A>G | NCBI36 |
| NG_033836.1:g.110730A>G | |
| NG_033836.2:g.172933A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000441037.7:c.596A>G | ENSP00000413001.3:p.His199Arg | |
| ENST00000614907.3:c.596A>G MANE Select | ENSP00000490608.2:p.His199Arg | |
| ENST00000421325.3:c.458A>G | ENSP00000397173.3:p.His153Arg | |
| ENST00000441037.6:c.458A>G | ENSP00000413001.2:p.His153Arg | |
| NM_152336.2:c.458A>G | NP_689549.2:p.His153Arg | |
| XM_011521226.1:c.596A>G | XP_011519528.1:p.His199Arg | |
| XM_011521227.1:c.596A>G | XP_011519529.1:p.His199Arg | |
| XM_011521228.1:c.596A>G | XP_011519530.1:p.His199Arg | |
| XM_011521229.1:c.596A>G | XP_011519531.1:p.His199Arg | |
| XM_011521230.1:c.596A>G | XP_011519532.1:p.His199Arg | |
| XR_931750.1:n.782A>G | ||
| XR_931751.1:n.782A>G | ||
| NM_152336.3:c.596A>G | NP_689549.3:p.His199Arg | |
| XM_011521226.3:c.596A>G | XP_011519528.1:p.His199Arg | |
| XM_011521227.3:c.596A>G | XP_011519529.1:p.His199Arg | |
| XM_011521228.3:c.596A>G | XP_011519530.1:p.His199Arg | |
| XM_011521230.3:c.596A>G | XP_011519532.1:p.His199Arg | |
| XM_017021918.2:c.596A>G | XP_016877407.1:p.His199Arg | |
| XM_017021919.2:c.596A>G | XP_016877408.1:p.His199Arg | |
| XM_017021920.2:c.596A>G | XP_016877409.1:p.His199Arg | |
| XM_017021921.2:c.596A>G | XP_016877410.1:p.His199Arg | |
| XR_931750.3:n.930A>G | ||
| XR_931751.3:n.930A>G | ||
| NM_152336.4:c.596A>G | NP_689549.3:p.His199Arg | |
| NM_001386094.1:c.596A>G MANE Select | NP_001373023.1:p.His199Arg |