Linked Data
ClinVar Variation Id:
1369965
dbSNP Id:
rs560591308
ExAC:
22:26853909 G / A
gnomAD v2:
22-26853909-G-A
gnomAD v3:
22-26457943-G-A
gnomAD v4:
22-26457943-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.26457943G>A , CM000684.2:g.26457943G>A | GRCh38 |
| NC_000022.10:g.26853909G>A , CM000684.1:g.26853909G>A | GRCh37 |
| NC_000022.9:g.25183909G>A | NCBI36 |
| NG_009763.2:g.30921C>T , LRG_590:g.30921C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000422379.3:c.1925C>T | ENSP00000415081.3:p.Pro642Leu | |
| ENST00000473782.2:c.1871C>T | ENSP00000514223.1:p.Pro624Leu | |
| ENST00000483631.2:c.1076C>T | ENSP00000514228.1:p.Pro359Leu | |
| ENST00000491142.2:c.1871C>T | ENSP00000514221.1:p.Pro624Leu | |
| ENST00000699226.1:n.4797C>T | ||
| ENST00000699227.1:c.*1215C>T | ENSP00000514220.1:n.*1215C>T | |
| ENST00000699228.1:n.2421C>T | ||
| ENST00000699229.1:n.1288C>T | ||
| ENST00000699230.1:n.2594C>T | ||
| ENST00000699231.1:n.4883C>T | ||
| ENST00000699232.1:n.3227C>T | ||
| ENST00000699233.1:n.1742C>T | ||
| ENST00000699234.1:c.*1215C>T | ENSP00000514222.1:n.*1215C>T | |
| ENST00000699235.1:c.1076C>T | ENSP00000514224.1:p.Pro359Leu | |
| ENST00000699236.1:c.*1060C>T | ENSP00000514225.1:n.*1060C>T | |
| ENST00000699237.1:c.*1060C>T | ENSP00000514226.1:n.*1060C>T | |
| ENST00000699238.1:c.*1414C>T | ENSP00000514227.1:n.*1414C>T | |
| ENST00000699239.1:n.4625C>T | ||
| ENST00000699240.1:c.*1528C>T | ENSP00000514229.1:n.*1528C>T | |
| ENST00000699241.1:c.*2063C>T | ENSP00000514230.1:n.*2063C>T | |
| ENST00000699242.1:c.1781C>T | ENSP00000514231.1:p.Pro594Leu | |
| ENST00000699243.1:c.*1215C>T | ENSP00000514232.1:n.*1215C>T | |
| ENST00000699244.1:c.1724C>T | ENSP00000514233.1:p.Pro575Leu | |
| ENST00000699245.1:n.1163C>T | ||
| ENST00000699246.1:c.*1242C>T | ENSP00000514234.1:n.*1242C>T | |
| ENST00000699247.1:c.827C>T | ENSP00000514235.1:p.Pro276Leu | |
| ENST00000699248.1:n.3784-4539C>T | ||
| ENST00000699249.1:c.*1058-4539C>T | ENSP00000514236.1:n.*1058-4539C>T | |
| ENST00000699250.1:c.1714-4539C>T | ENSP00000514237.1:n.1714-4539C>T | |
| ENST00000699251.1:c.1871C>T | ENSP00000514238.1:p.Pro624Leu | |
| ENST00000699252.1:n.2421C>T | ||
| ENST00000398145.7:c.1871C>T MANE Select | ENSP00000381213.2:p.Pro624Leu | |
| ENST00000336873.9:c.1871C>T | ENSP00000338457.5:p.Pro624Leu | |
| ENST00000398145.6:c.1871C>T | ENSP00000381213.2:p.Pro624Leu | |
| ENST00000402105.7:c.1856C>T | ENSP00000384185.3:p.Pro619Leu | |
| ENST00000429411.5:c.*1443C>T | ENSP00000399705.1:n.*1443C>T | |
| ENST00000439453.5:c.*1389C>T | ENSP00000406764.1:n.*1389C>T | |
| ENST00000464362.5:c.*2202C>T | ENSP00000430291.1:n.*2202C>T | |
| ENST00000466781.5:n.4730C>T | ||
| ENST00000485842.5:n.562C>T | ||
| ENST00000493455.6:n.434C>T | ||
| ENST00000496385.5:n.2480-4539C>T | ||
| ENST00000519774.5:n.257C>T | ||
| NM_022081.5:c.1871C>T , LRG_590t1:c.1871C>T | NP_071364.4:p.Pro624Leu | |
| NM_152841.2:c.1856C>T , LRG_590t2:c.1856C>T | NP_690054.1:p.Pro619Leu | |
| NR_073135.1:n.2557C>T | ||
| NR_073136.1:n.2319C>T | ||
| XM_006724353.2:c.1925C>T | XP_006724416.1:p.Pro642Leu | |
| XM_006724354.2:c.1925C>T | XP_006724417.1:p.Pro642Leu | |
| XM_006724360.2:c.1358C>T | XP_006724423.1:p.Pro453Leu | |
| XM_011530485.1:c.2003C>T | XP_011528787.1:p.Pro668Leu | |
| XM_011530486.1:c.2003C>T | XP_011528788.1:p.Pro668Leu | |
| XM_011530487.1:c.2003C>T | XP_011528789.1:p.Pro668Leu | |
| XM_011530488.1:c.2003C>T | XP_011528790.1:p.Pro668Leu | |
| XM_011530489.1:c.2003C>T | XP_011528791.1:p.Pro668Leu | |
| XM_011530490.1:c.1949C>T | XP_011528792.1:p.Pro650Leu | |
| XM_011530491.1:c.2003C>T | XP_011528793.1:p.Pro668Leu | |
| XM_011530492.1:c.2003C>T | XP_011528794.1:p.Pro668Leu | |
| XM_011530493.1:c.1846-4539C>T | XP_011528795.1:n.1846-4539C>T | |
| XM_011530494.1:c.1211C>T | XP_011528796.1:p.Pro404Leu | |
| XM_011530495.1:c.1358C>T | XP_011528797.1:p.Pro453Leu | |
| XM_011530496.1:c.1211C>T | XP_011528798.1:p.Pro404Leu | |
| XR_937947.1:n.2662C>T | ||
| NM_001349896.1:c.1871C>T | NP_001336825.1:p.Pro624Leu | |
| NM_001349898.1:c.1871C>T | NP_001336827.1:p.Pro624Leu | |
| NM_001349899.1:c.1871C>T | NP_001336828.1:p.Pro624Leu | |
| NM_001349900.1:c.1925C>T | NP_001336829.1:p.Pro642Leu | |
| NM_001349901.1:c.1925C>T | NP_001336830.1:p.Pro642Leu | |
| NM_001349902.1:c.1714-4539C>T | NP_001336831.1:n.1714-4539C>T | |
| NM_001349903.1:c.1714-4539C>T | NP_001336832.1:n.1714-4539C>T | |
| NM_001349904.1:c.1871C>T | NP_001336833.1:p.Pro624Leu | |
| NM_001349905.1:c.1871C>T | NP_001336834.1:p.Pro624Leu | |
| NR_146311.1:n.2648C>T | ||
| NR_146312.1:n.2473C>T | ||
| NR_146313.1:n.2493C>T | ||
| NR_146314.1:n.2624C>T | ||
| NR_146315.1:n.2564C>T | ||
| NR_146316.1:n.2539C>T | ||
| XM_006724360.3:c.1358C>T | XP_006724423.1:p.Pro453Leu | |
| XM_011530485.2:c.2003C>T | XP_011528787.1:p.Pro668Leu | |
| XM_011530486.2:c.2003C>T | XP_011528788.1:p.Pro668Leu | |
| XM_011530487.2:c.2003C>T | XP_011528789.1:p.Pro668Leu | |
| XM_011530488.2:c.2003C>T | XP_011528790.1:p.Pro668Leu | |
| XM_011530489.2:c.2003C>T | XP_011528791.1:p.Pro668Leu | |
| XM_011530490.3:c.1949C>T | XP_011528792.1:p.Pro650Leu | |
| XM_011530491.3:c.2003C>T | XP_011528793.1:p.Pro668Leu | |
| XM_011530492.2:c.2003C>T | XP_011528794.1:p.Pro668Leu | |
| XM_011530493.3:c.1846-4539C>T | XP_011528795.1:n.1846-4539C>T | |
| XM_011530494.2:c.1211C>T | XP_011528796.1:p.Pro404Leu | |
| XM_011530495.2:c.1358C>T | XP_011528797.1:p.Pro453Leu | |
| XM_011530496.2:c.1211C>T | XP_011528798.1:p.Pro404Leu | |
| XM_017029045.2:c.1949C>T | XP_016884534.1:p.Pro650Leu | |
| XM_017029046.2:c.1871C>T | XP_016884535.1:p.Pro624Leu | |
| XM_017029047.2:c.1792-4539C>T | XP_016884536.1:n.1792-4539C>T | |
| XM_017029052.2:c.1463C>T | XP_016884541.1:p.Pro488Leu | |
| XM_017029053.1:c.1448C>T | XP_016884542.1:p.Pro483Leu | |
| XM_017029056.2:c.1076C>T | XP_016884545.1:p.Pro359Leu | |
| XM_017029061.2:c.1076C>T | XP_016884550.1:p.Pro359Leu | |
| XM_017029062.2:c.1076C>T | XP_016884551.1:p.Pro359Leu | |
| XM_017029063.2:c.1076C>T | XP_016884552.1:p.Pro359Leu | |
| XM_017029064.2:c.1076C>T | XP_016884553.1:p.Pro359Leu | |
| XM_024452298.1:c.1244C>T | XP_024308066.1:p.Pro415Leu | |
| XM_024452299.1:c.1076C>T | XP_024308067.1:p.Pro359Leu | |
| XM_024452300.1:c.1076C>T | XP_024308068.1:p.Pro359Leu | |
| XR_001755361.2:n.2579C>T | ||
| XR_001755364.1:n.2278-4539C>T | ||
| XR_001755366.2:n.3108C>T | ||
| XR_002958721.1:n.2500-4539C>T | ||
| XR_937947.2:n.2657C>T | ||
| NM_001349898.2:c.1871C>T | NP_001336827.1:p.Pro624Leu | |
| NM_001349899.2:c.1871C>T | NP_001336828.1:p.Pro624Leu | |
| NM_001349900.2:c.1925C>T | NP_001336829.1:p.Pro642Leu | |
| NM_001349903.2:c.1714-4539C>T | NP_001336832.1:n.1714-4539C>T | |
| NM_001349904.2:c.1871C>T | NP_001336833.1:p.Pro624Leu | |
| NR_073136.2:n.2126C>T | ||
| NR_146311.2:n.2568C>T | ||
| NR_146313.2:n.2413C>T | ||
| NR_146315.2:n.2484C>T | ||
| NM_022081.6:c.1871C>T MANE Select | NP_071364.4:p.Pro624Leu | |
| NR_146316.2:n.2459C>T |