Linked Data
dbSNP Id:
rs751823743
ExAC:
22:26860378 G / A
gnomAD v2:
22-26860378-G-A
gnomAD v4:
22-26464412-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.26464412G>A , CM000684.2:g.26464412G>A | GRCh38 |
| NC_000022.10:g.26860378G>A , CM000684.1:g.26860378G>A | GRCh37 |
| NC_000022.9:g.25190378G>A | NCBI36 |
| NG_009763.2:g.24452C>T , LRG_590:g.24452C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000422379.3:c.1272C>T | ENSP00000415081.3:p.Leu424= | |
| ENST00000473782.2:c.1218C>T | ENSP00000514223.1:p.Leu406= | |
| ENST00000483631.2:c.423C>T | ENSP00000514228.1:p.Leu141= | |
| ENST00000491142.2:c.1218C>T | ENSP00000514221.1:p.Leu406= | |
| ENST00000699226.1:n.4144C>T | ||
| ENST00000699227.1:c.*562C>T | ENSP00000514220.1:n.*562C>T | |
| ENST00000699228.1:n.1768C>T | ||
| ENST00000699229.1:n.635C>T | ||
| ENST00000699230.1:n.1941C>T | ||
| ENST00000699231.1:n.4230C>T | ||
| ENST00000699232.1:n.2574C>T | ||
| ENST00000699233.1:n.1089C>T | ||
| ENST00000699234.1:c.*562C>T | ENSP00000514222.1:n.*562C>T | |
| ENST00000699235.1:c.423C>T | ENSP00000514224.1:p.Leu141= | |
| ENST00000699236.1:c.*407C>T | ENSP00000514225.1:n.*407C>T | |
| ENST00000699237.1:c.*407C>T | ENSP00000514226.1:n.*407C>T | |
| ENST00000699238.1:c.*761C>T | ENSP00000514227.1:n.*761C>T | |
| ENST00000699239.1:n.3972C>T | ||
| ENST00000699240.1:c.*875C>T | ENSP00000514229.1:n.*875C>T | |
| ENST00000699241.1:c.*1410C>T | ENSP00000514230.1:n.*1410C>T | |
| ENST00000699242.1:c.1128C>T | ENSP00000514231.1:p.Leu376= | |
| ENST00000699243.1:c.*562C>T | ENSP00000514232.1:n.*562C>T | |
| ENST00000699244.1:c.1071C>T | ENSP00000514233.1:p.Leu357= | |
| ENST00000699246.1:c.*589C>T | ENSP00000514234.1:n.*589C>T | |
| ENST00000699247.1:c.669+4139C>T | ENSP00000514235.1:n.669+4139C>T | |
| ENST00000699248.1:n.3288C>T | ||
| ENST00000699249.1:c.*562C>T | ENSP00000514236.1:n.*562C>T | |
| ENST00000699250.1:c.1218C>T | ENSP00000514237.1:p.Leu406= | |
| ENST00000699251.1:c.1218C>T | ENSP00000514238.1:p.Leu406= | |
| ENST00000699252.1:n.1768C>T | ||
| ENST00000398145.7:c.1218C>T MANE Select | ENSP00000381213.2:p.Leu406= | |
| ENST00000336873.9:c.1218C>T | ENSP00000338457.5:p.Leu406= | |
| ENST00000398145.6:c.1218C>T | ENSP00000381213.2:p.Leu406= | |
| ENST00000402105.7:c.1203C>T | ENSP00000384185.3:p.Leu401= | |
| ENST00000422379.2:c.1272C>T | ENSP00000415081.2:p.Leu424= | |
| ENST00000429411.5:c.*790C>T | ENSP00000399705.1:n.*790C>T | |
| ENST00000439453.5:c.*736C>T | ENSP00000406764.1:n.*736C>T | |
| ENST00000464362.5:c.*1549C>T | ENSP00000430291.1:n.*1549C>T | |
| ENST00000466781.5:n.4077C>T | ||
| ENST00000485842.5:n.404+4139C>T | ||
| ENST00000496385.5:n.1984C>T | ||
| NM_022081.5:c.1218C>T , LRG_590t1:c.1218C>T | NP_071364.4:p.Leu406= | |
| NM_152841.2:c.1203C>T , LRG_590t2:c.1203C>T | NP_690054.1:p.Leu401= | |
| NR_073135.1:n.1904C>T | ||
| NR_073136.1:n.1666C>T | ||
| XM_006724353.2:c.1272C>T | XP_006724416.1:p.Leu424= | |
| XM_006724354.2:c.1272C>T | XP_006724417.1:p.Leu424= | |
| XM_006724360.2:c.705C>T | XP_006724423.1:p.Leu235= | |
| XM_011530485.1:c.1350C>T | XP_011528787.1:p.Leu450= | |
| XM_011530486.1:c.1350C>T | XP_011528788.1:p.Leu450= | |
| XM_011530487.1:c.1350C>T | XP_011528789.1:p.Leu450= | |
| XM_011530488.1:c.1350C>T | XP_011528790.1:p.Leu450= | |
| XM_011530489.1:c.1350C>T | XP_011528791.1:p.Leu450= | |
| XM_011530490.1:c.1296C>T | XP_011528792.1:p.Leu432= | |
| XM_011530491.1:c.1350C>T | XP_011528793.1:p.Leu450= | |
| XM_011530492.1:c.1350C>T | XP_011528794.1:p.Leu450= | |
| XM_011530493.1:c.1350C>T | XP_011528795.1:p.Leu450= | |
| XM_011530494.1:c.558C>T | XP_011528796.1:p.Leu186= | |
| XM_011530495.1:c.705C>T | XP_011528797.1:p.Leu235= | |
| XM_011530496.1:c.558C>T | XP_011528798.1:p.Leu186= | |
| XR_937947.1:n.2009C>T | ||
| NM_001349896.1:c.1218C>T | NP_001336825.1:p.Leu406= | |
| NM_001349898.1:c.1218C>T | NP_001336827.1:p.Leu406= | |
| NM_001349899.1:c.1218C>T | NP_001336828.1:p.Leu406= | |
| NM_001349900.1:c.1272C>T | NP_001336829.1:p.Leu424= | |
| NM_001349901.1:c.1272C>T | NP_001336830.1:p.Leu424= | |
| NM_001349902.1:c.1218C>T | NP_001336831.1:p.Leu406= | |
| NM_001349903.1:c.1218C>T | NP_001336832.1:p.Leu406= | |
| NM_001349904.1:c.1218C>T | NP_001336833.1:p.Leu406= | |
| NM_001349905.1:c.1218C>T | NP_001336834.1:p.Leu406= | |
| NR_146311.1:n.1995C>T | ||
| NR_146312.1:n.1820C>T | ||
| NR_146313.1:n.1840C>T | ||
| NR_146314.1:n.1971C>T | ||
| NR_146315.1:n.1911C>T | ||
| NR_146316.1:n.1886C>T | ||
| XM_006724360.3:c.705C>T | XP_006724423.1:p.Leu235= | |
| XM_011530485.2:c.1350C>T | XP_011528787.1:p.Leu450= | |
| XM_011530486.2:c.1350C>T | XP_011528788.1:p.Leu450= | |
| XM_011530487.2:c.1350C>T | XP_011528789.1:p.Leu450= | |
| XM_011530488.2:c.1350C>T | XP_011528790.1:p.Leu450= | |
| XM_011530489.2:c.1350C>T | XP_011528791.1:p.Leu450= | |
| XM_011530490.3:c.1296C>T | XP_011528792.1:p.Leu432= | |
| XM_011530491.3:c.1350C>T | XP_011528793.1:p.Leu450= | |
| XM_011530492.2:c.1350C>T | XP_011528794.1:p.Leu450= | |
| XM_011530493.3:c.1350C>T | XP_011528795.1:p.Leu450= | |
| XM_011530494.2:c.558C>T | XP_011528796.1:p.Leu186= | |
| XM_011530495.2:c.705C>T | XP_011528797.1:p.Leu235= | |
| XM_011530496.2:c.558C>T | XP_011528798.1:p.Leu186= | |
| XM_017029045.2:c.1296C>T | XP_016884534.1:p.Leu432= | |
| XM_017029046.2:c.1218C>T | XP_016884535.1:p.Leu406= | |
| XM_017029047.2:c.1296C>T | XP_016884536.1:p.Leu432= | |
| XM_017029052.2:c.810C>T | XP_016884541.1:p.Leu270= | |
| XM_017029053.1:c.795C>T | XP_016884542.1:p.Leu265= | |
| XM_017029056.2:c.423C>T | XP_016884545.1:p.Leu141= | |
| XM_017029061.2:c.423C>T | XP_016884550.1:p.Leu141= | |
| XM_017029062.2:c.423C>T | XP_016884551.1:p.Leu141= | |
| XM_017029063.2:c.423C>T | XP_016884552.1:p.Leu141= | |
| XM_017029064.2:c.423C>T | XP_016884553.1:p.Leu141= | |
| XM_024452298.1:c.591C>T | XP_024308066.1:p.Leu197= | |
| XM_024452299.1:c.423C>T | XP_024308067.1:p.Leu141= | |
| XM_024452300.1:c.423C>T | XP_024308068.1:p.Leu141= | |
| XR_001755361.2:n.1926C>T | ||
| XR_001755364.1:n.1782C>T | ||
| XR_001755366.2:n.2455C>T | ||
| XR_002958721.1:n.2004C>T | ||
| XR_937947.2:n.2004C>T | ||
| NM_001349898.2:c.1218C>T | NP_001336827.1:p.Leu406= | |
| NM_001349899.2:c.1218C>T | NP_001336828.1:p.Leu406= | |
| NM_001349900.2:c.1272C>T | NP_001336829.1:p.Leu424= | |
| NM_001349903.2:c.1218C>T | NP_001336832.1:p.Leu406= | |
| NM_001349904.2:c.1218C>T | NP_001336833.1:p.Leu406= | |
| NR_073136.2:n.1473C>T | ||
| NR_146311.2:n.1915C>T | ||
| NR_146313.2:n.1760C>T | ||
| NR_146315.2:n.1831C>T | ||
| NM_022081.6:c.1218C>T MANE Select | NP_071364.4:p.Leu406= | |
| NR_146316.2:n.1806C>T |