Revel Score:
ENST00000322914
0.122
ENST00000392467
0.122
ENST00000306591
0.122
ENST00000322933
0.122
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00209953 (AFR)
Genomes Max Group AF
0.00246671 (AFR)
Exomes Max Group AF
0.00140228 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.78122618C>T , CM000679.2:g.78122618C>T | GRCh38 |
| NC_000017.10:g.76118699C>T , CM000679.1:g.76118699C>T | GRCh37 |
| NC_000017.9:g.73630294C>T | NCBI36 |
| NG_007879.1:g.14790G>A , LRG_118:g.14790G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000589271.6:c.1214G>A | ENSP00000468255.2:p.Arg405His | |
| ENST00000592063.6:c.1214G>A | ENSP00000466885.2:p.Arg405His | |
| ENST00000698545.1:n.691G>A | ||
| ENST00000698546.1:c.*1036G>A | ENSP00000513789.1:n.*1036G>A | |
| ENST00000698547.1:c.*532G>A | ENSP00000513790.1:n.*532G>A | |
| ENST00000698548.1:c.1214G>A | ENSP00000513791.1:p.Arg405His | |
| ENST00000698549.1:c.*1036G>A | ENSP00000513792.1:n.*1036G>A | |
| ENST00000698550.1:c.1214G>A | ENSP00000513793.1:p.Arg405His | |
| ENST00000698551.1:c.1214G>A | ENSP00000513794.1:p.Arg405His | |
| ENST00000590602.6:c.1214G>A MANE Select | ENSP00000465261.1:p.Arg405His | |
| ENST00000306591.11:c.1214G>A | ENSP00000306405.6:p.Arg405His | |
| ENST00000322914.7:c.1214G>A | ENSP00000313408.2:p.Arg405His | |
| ENST00000392467.7:c.1214G>A | ENSP00000376260.2:p.Arg405His | |
| ENST00000585849.1:n.494G>A | ||
| ENST00000588087.5:n.1407G>A | ||
| ENST00000589553.5:c.533G>A | ENSP00000465359.1:p.Arg178His | |
| ENST00000590602.5:c.1214G>A | ENSP00000465261.1:p.Arg405His | |
| ENST00000591436.5:c.131G>A | ENSP00000464853.1:p.Arg44His | |
| ENST00000592076.5:n.310G>A | ||
| ENST00000593044.5:n.1794G>A | ||
| NM_001127198.1:c.1214G>A | NP_001120670.1:p.Arg405His | |
| NM_007267.6:c.1214G>A , LRG_118t1:c.1214G>A | NP_009198.4:p.Arg405His | |
| XM_005256995.1:c.1214G>A | XP_005257052.1:p.Arg405His | |
| XM_005256996.1:c.1214G>A | XP_005257053.1:p.Arg405His | |
| XM_005256997.1:c.1214G>A | XP_005257054.1:p.Arg405His | |
| XM_005256998.1:c.533G>A | XP_005257055.1:p.Arg178His | |
| XM_011524255.1:c.1214G>A | XP_011522557.1:p.Arg405His | |
| XM_011524256.1:c.1088G>A | XP_011522558.1:p.Arg363His | |
| XM_011524257.1:c.404G>A | XP_011522559.1:p.Arg135His | |
| XM_011524258.1:c.1214G>A | XP_011522560.1:p.Arg405His | |
| XR_243632.1:n.1402G>A | ||
| NM_001127198.2:c.1214G>A | NP_001120670.1:p.Arg405His | |
| NM_001321185.1:c.1214G>A | NP_001308114.1:p.Arg405His | |
| NM_007267.7:c.1214G>A | NP_009198.4:p.Arg405His | |
| XM_011524257.3:c.404G>A | XP_011522559.1:p.Arg135His | |
| XM_017024107.1:c.1214G>A | XP_016879596.1:p.Arg405His | |
| XM_017024108.1:c.1214G>A | XP_016879597.1:p.Arg405His | |
| XM_024450555.1:c.1214G>A | XP_024306323.1:p.Arg405His | |
| XM_024450556.1:c.1214G>A | XP_024306324.1:p.Arg405His | |
| XM_024450557.1:c.533G>A | XP_024306325.1:p.Arg178His | |
| XR_001752420.1:n.1402G>A | ||
| NM_001127198.5:c.1214G>A MANE Select | NP_001120670.1:p.Arg405His | |
| NM_001374593.1:c.1214G>A | NP_001361522.1:p.Arg405His | |
| NM_001374594.1:c.1214G>A | NP_001361523.1:p.Arg405His | |
| NM_001375353.1:c.1214G>A | NP_001362282.1:p.Arg405His | |
| NM_001375354.1:c.1214G>A | NP_001362283.1:p.Arg405His | |
| NM_001374596.1:c.1214G>A | NP_001361525.1:p.Arg405His | |
| NR_168288.1:n.1432G>A | ||
| NR_168289.1:n.1432G>A | ||
| NR_168290.1:n.1335G>A | ||
| NR_168291.1:n.1385G>A |