ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.26472391C>A , CM000684.2:g.26472391C>A | GRCh38 |
| NC_000022.10:g.26868357C>A , CM000684.1:g.26868357C>A | GRCh37 |
| NC_000022.9:g.25198357C>A | NCBI36 |
| NG_009763.2:g.16473G>T , LRG_590:g.16473G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000422379.3:c.412G>T | ENSP00000415081.3:p.Glu138Ter | |
| ENST00000473782.2:c.412G>T | ENSP00000514223.1:p.Glu138Ter | |
| ENST00000483631.2:c.-384G>T | ENSP00000514228.1:n.-384G>T | |
| ENST00000491142.2:c.412G>T | ENSP00000514221.1:p.Glu138Ter | |
| ENST00000699227.1:c.412G>T | ENSP00000514220.1:p.Glu138Ter | |
| ENST00000699228.1:n.962G>T | ||
| ENST00000699233.1:n.283G>T | ||
| ENST00000699234.1:c.397G>T | ENSP00000514222.1:p.Glu133Ter | |
| ENST00000699235.1:c.-311G>T | ENSP00000514224.1:n.-311G>T | |
| ENST00000699236.1:c.412G>T | ENSP00000514225.1:p.Glu138Ter | |
| ENST00000699237.1:c.412G>T | ENSP00000514226.1:p.Glu138Ter | |
| ENST00000699238.1:c.412G>T | ENSP00000514227.1:p.Glu138Ter | |
| ENST00000699239.1:n.878G>T | ||
| ENST00000699240.1:c.412G>T | ENSP00000514229.1:p.Glu138Ter | |
| ENST00000699241.1:c.412G>T | ENSP00000514230.1:p.Glu138Ter | |
| ENST00000699242.1:c.268G>T | ENSP00000514231.1:p.Glu90Ter | |
| ENST00000699243.1:c.412G>T | ENSP00000514232.1:p.Glu138Ter | |
| ENST00000699244.1:c.412G>T | ENSP00000514233.1:p.Glu138Ter | |
| ENST00000699246.1:c.412G>T | ENSP00000514234.1:p.Glu138Ter | |
| ENST00000699247.1:c.412G>T | ENSP00000514235.1:p.Glu138Ter | |
| ENST00000699248.1:n.2482G>T | ||
| ENST00000699249.1:c.412G>T | ENSP00000514236.1:p.Glu138Ter | |
| ENST00000699250.1:c.412G>T | ENSP00000514237.1:p.Glu138Ter | |
| ENST00000699251.1:c.412G>T | ENSP00000514238.1:p.Glu138Ter | |
| ENST00000699252.1:n.962G>T | ||
| ENST00000699253.1:n.982G>T | ||
| ENST00000699254.1:n.1168G>T | ||
| ENST00000699255.1:n.498G>T | ||
| ENST00000398145.7:c.412G>T MANE Select | ENSP00000381213.2:p.Glu138Ter | |
| ENST00000336873.9:c.412G>T | ENSP00000338457.5:p.Glu138Ter | |
| ENST00000398145.6:c.412G>T | ENSP00000381213.2:p.Glu138Ter | |
| ENST00000402105.7:c.397G>T | ENSP00000384185.3:p.Glu133Ter | |
| ENST00000422379.2:c.412G>T | ENSP00000415081.2:p.Glu138Ter | |
| ENST00000429411.5:c.397G>T | ENSP00000399705.1:p.Glu133Ter | |
| ENST00000439453.5:c.412G>T | ENSP00000406764.1:p.Glu138Ter | |
| ENST00000459918.1:n.155G>T | ||
| ENST00000464362.5:c.397G>T | ENSP00000430291.1:p.Glu133Ter | |
| ENST00000466781.5:n.983G>T | ||
| ENST00000485842.5:n.147G>T | ||
| ENST00000496385.5:n.504G>T | ||
| NM_022081.5:c.412G>T , LRG_590t1:c.412G>T | NP_071364.4:p.Glu138Ter | |
| NM_152841.2:c.397G>T , LRG_590t2:c.397G>T | NP_690054.1:p.Glu133Ter | |
| NR_073135.1:n.989G>T | ||
| NR_073136.1:n.697G>T | ||
| XM_006724353.2:c.412G>T | XP_006724416.1:p.Glu138Ter | |
| XM_006724354.2:c.412G>T | XP_006724417.1:p.Glu138Ter | |
| XM_011530485.1:c.412G>T | XP_011528787.1:p.Glu138Ter | |
| XM_011530486.1:c.412G>T | XP_011528788.1:p.Glu138Ter | |
| XM_011530487.1:c.412G>T | XP_011528789.1:p.Glu138Ter | |
| XM_011530488.1:c.412G>T | XP_011528790.1:p.Glu138Ter | |
| XM_011530489.1:c.412G>T | XP_011528791.1:p.Glu138Ter | |
| XM_011530490.1:c.412G>T | XP_011528792.1:p.Glu138Ter | |
| XM_011530491.1:c.412G>T | XP_011528793.1:p.Glu138Ter | |
| XM_011530492.1:c.412G>T | XP_011528794.1:p.Glu138Ter | |
| XM_011530493.1:c.412G>T | XP_011528795.1:p.Glu138Ter | |
| XM_011530494.1:c.-381G>T | XP_011528796.1:n.-381G>T | |
| XR_937947.1:n.1071G>T | ||
| NM_001349896.1:c.412G>T | NP_001336825.1:p.Glu138Ter | |
| NM_001349898.1:c.412G>T | NP_001336827.1:p.Glu138Ter | |
| NM_001349899.1:c.412G>T | NP_001336828.1:p.Glu138Ter | |
| NM_001349900.1:c.412G>T | NP_001336829.1:p.Glu138Ter | |
| NM_001349901.1:c.412G>T | NP_001336830.1:p.Glu138Ter | |
| NM_001349902.1:c.412G>T | NP_001336831.1:p.Glu138Ter | |
| NM_001349903.1:c.412G>T | NP_001336832.1:p.Glu138Ter | |
| NM_001349904.1:c.412G>T | NP_001336833.1:p.Glu138Ter | |
| NM_001349905.1:c.412G>T | NP_001336834.1:p.Glu138Ter | |
| NR_146311.1:n.1080G>T | ||
| NR_146312.1:n.989G>T | ||
| NR_146313.1:n.1009G>T | ||
| NR_146314.1:n.989G>T | ||
| NR_146315.1:n.1080G>T | ||
| NR_146316.1:n.1080G>T | ||
| XM_011530485.2:c.412G>T | XP_011528787.1:p.Glu138Ter | |
| XM_011530486.2:c.412G>T | XP_011528788.1:p.Glu138Ter | |
| XM_011530487.2:c.412G>T | XP_011528789.1:p.Glu138Ter | |
| XM_011530488.2:c.412G>T | XP_011528790.1:p.Glu138Ter | |
| XM_011530489.2:c.412G>T | XP_011528791.1:p.Glu138Ter | |
| XM_011530490.3:c.412G>T | XP_011528792.1:p.Glu138Ter | |
| XM_011530491.3:c.412G>T | XP_011528793.1:p.Glu138Ter | |
| XM_011530492.2:c.412G>T | XP_011528794.1:p.Glu138Ter | |
| XM_011530493.3:c.412G>T | XP_011528795.1:p.Glu138Ter | |
| XM_011530494.2:c.-381G>T | XP_011528796.1:n.-381G>T | |
| XM_017029045.2:c.412G>T | XP_016884534.1:p.Glu138Ter | |
| XM_017029046.2:c.412G>T | XP_016884535.1:p.Glu138Ter | |
| XM_017029047.2:c.412G>T | XP_016884536.1:p.Glu138Ter | |
| XM_017029052.2:c.-160G>T | XP_016884541.1:n.-160G>T | |
| XM_017029056.2:c.-560G>T | XP_016884545.1:n.-560G>T | |
| XM_017029061.2:c.-518G>T | XP_016884550.1:n.-518G>T | |
| XM_017029062.2:c.-384G>T | XP_016884551.1:n.-384G>T | |
| XM_017029063.2:c.-518G>T | XP_016884552.1:n.-518G>T | |
| XM_017029064.2:c.-384G>T | XP_016884553.1:n.-384G>T | |
| XM_024452298.1:c.-2504G>T | XP_024308066.1:n.-2504G>T | |
| XM_024452299.1:c.-1058G>T | XP_024308067.1:n.-1058G>T | |
| XM_024452300.1:c.-409G>T | XP_024308068.1:n.-409G>T | |
| XR_001755361.2:n.1066G>T | ||
| XR_001755364.1:n.976G>T | ||
| XR_001755366.2:n.975G>T | ||
| XR_002958721.1:n.1066G>T | ||
| XR_937947.2:n.1066G>T | ||
| NM_001349898.2:c.412G>T | NP_001336827.1:p.Glu138Ter | |
| NM_001349899.2:c.412G>T | NP_001336828.1:p.Glu138Ter | |
| NM_001349900.2:c.412G>T | NP_001336829.1:p.Glu138Ter | |
| NM_001349903.2:c.412G>T | NP_001336832.1:p.Glu138Ter | |
| NM_001349904.2:c.412G>T | NP_001336833.1:p.Glu138Ter | |
| NR_073136.2:n.504G>T | ||
| NR_146311.2:n.1000G>T | ||
| NR_146313.2:n.929G>T | ||
| NR_146315.2:n.1000G>T | ||
| NM_022081.6:c.412G>T MANE Select | NP_071364.4:p.Glu138Ter | |
| NR_146316.2:n.1000G>T |