Revel Score:
ENST00000345662
0.563
ENST00000315285 (MANE Select)
0.563
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00049583 (SAS)
Exomes Max Group AF
0.00051329 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.32137112C>A , CM000664.2:g.32137112C>A | GRCh38 |
| NC_000002.11:g.32362181C>A , CM000664.1:g.32362181C>A | GRCh37 |
| NC_000002.10:g.32215685C>A | NCBI36 |
| NG_008730.1:g.78502C>A , LRG_714:g.78502C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000704289.1:c.*1077C>A | ENSP00000515816.1:n.*1077C>A | |
| ENST00000315285.9:c.1417C>A MANE Select | ENSP00000320885.3:p.Gln473Lys | |
| ENST00000621856.2:c.1414C>A | ENSP00000482496.2:p.Gln472Lys | |
| ENST00000642281.1:c.1154C>A | ||
| ENST00000642455.1:c.1318C>A | ENSP00000493827.1:p.Gln440Lys | |
| ENST00000642751.1:c.1191C>A | ||
| ENST00000642999.1:c.1159C>A | ENSP00000496589.1:p.Gln387Lys | |
| ENST00000643327.1:c.484C>A | ||
| ENST00000643334.1:c.997C>A | ||
| ENST00000644408.1:c.1293C>A | ||
| ENST00000644954.1:c.1063C>A | ENSP00000494312.1:p.Gln355Lys | |
| ENST00000645159.1:n.2154C>A | ||
| ENST00000645671.1:c.867C>A | ||
| ENST00000645730.1:c.596C>A | ||
| ENST00000646082.1:c.1063C>A | ||
| ENST00000646571.1:c.1321C>A | ENSP00000495015.1:p.Gln441Lys | |
| ENST00000647007.1:n.1109C>A | ||
| ENST00000647133.1:c.917C>A | ||
| ENST00000315285.7:c.1417C>A | ENSP00000320885.3:p.Gln473Lys | |
| ENST00000345662.5:c.1321C>A | ENSP00000340817.1:p.Gln441Lys | |
| ENST00000615843.4:c.1417C>A | ENSP00000480893.1:p.Gln473Lys | |
| ENST00000621856.1:c.1159C>A | ENSP00000482496.1:p.Gln387Lys | |
| NM_014946.3:c.1417C>A , LRG_714t1:c.1417C>A | NP_055761.2:p.Gln473Lys | |
| NM_199436.1:c.1321C>A | NP_955468.1:p.Gln441Lys | |
| XM_005264516.3:c.1414C>A | XP_005264573.1:p.Gln472Lys | |
| XM_011533067.1:c.1417C>A | XP_011531369.1:p.Gln473Lys | |
| NM_001363823.1:c.1414C>A | NP_001350752.1:p.Gln472Lys | |
| NM_001363875.1:c.1318C>A | NP_001350804.1:p.Gln440Lys | |
| XM_005264516.5:c.1414C>A | XP_005264573.1:p.Gln472Lys | |
| XM_011533067.2:c.1417C>A | XP_011531369.1:p.Gln473Lys | |
| XM_017004778.2:c.1321C>A | XP_016860267.1:p.Gln441Lys | |
| NM_001363823.2:c.1414C>A | NP_001350752.1:p.Gln472Lys | |
| NM_001363875.2:c.1318C>A | NP_001350804.1:p.Gln440Lys | |
| NM_001377959.1:c.1321C>A | NP_001364888.1:p.Gln441Lys | |
| NM_014946.4:c.1417C>A MANE Select | NP_055761.2:p.Gln473Lys | |
| NM_199436.2:c.1321C>A | NP_955468.1:p.Gln441Lys |