Revel Score:
ENST00000356083 (MANE Select)
0.971
ENST00000357257
0.971
ENST00000374106
0.971
ENST00000451716
0.971
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00094642 (AMR)
Genomes Max Group AF
0.0022011 (AMR)
Exomes Max Group AF
0.00040664 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.114195977G>C , CM000671.2:g.114195977G>C | GRCh38 |
| NC_000009.11:g.116958257G>C , CM000671.1:g.116958257G>C | GRCh37 |
| NC_000009.10:g.115998078G>C | NCBI36 |
| NG_034260.1:g.45433G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356083.8:c.2089G>C MANE Select | ENSP00000348385.3:p.Gly697Arg | |
| ENST00000356083.7:c.2089G>C | ENSP00000348385.3:p.Gly697Arg | |
| ENST00000451716.5:c.1876G>C | ENSP00000391328.1:p.Gly626Arg | |
| ENST00000494090.6:c.983G>C | ||
| NM_032888.3:c.2089G>C | NP_116277.2:p.Gly697Arg | |
| XM_006717308.2:c.2035G>C | XP_006717371.1:p.Gly679Arg | |
| XM_011519138.1:c.2083G>C | XP_011517440.1:p.Gly695Arg | |
| XM_011519139.1:c.2065G>C | XP_011517441.1:p.Gly689Arg | |
| XM_011519140.1:c.2089G>C | XP_011517442.1:p.Gly697Arg | |
| XM_011519141.1:c.2089G>C | XP_011517443.1:p.Gly697Arg | |
| XM_011519142.1:c.2089G>C | XP_011517444.1:p.Gly697Arg | |
| XM_011519143.1:c.2089G>C | XP_011517445.1:p.Gly697Arg | |
| XM_011519144.1:c.2089G>C | XP_011517446.1:p.Gly697Arg | |
| XR_929860.1:n.2565G>C | ||
| XR_929861.1:n.2566G>C | ||
| XR_929862.1:n.2567G>C | ||
| XR_929863.1:n.2567G>C | ||
| XM_006717310.3:c.-219G>C | XP_006717373.1:n.-219G>C | |
| XM_011519138.2:c.2083G>C | XP_011517440.1:p.Gly695Arg | |
| XM_011519142.3:c.2089G>C | XP_011517444.1:p.Gly697Arg | |
| XM_011519143.2:c.2089G>C | XP_011517445.1:p.Gly697Arg | |
| XM_011519144.2:c.2089G>C | XP_011517446.1:p.Gly697Arg | |
| XM_017015239.1:c.2089G>C | XP_016870728.1:p.Gly697Arg | |
| XR_001746405.1:n.2567G>C | ||
| XR_929860.3:n.2566G>C | ||
| XR_929861.2:n.2567G>C | ||
| NM_032888.4:c.2089G>C MANE Select | NP_116277.2:p.Gly697Arg |