Linked Data
ClinVar Variation Id:
4125
ClinVar RCV Id:
RCV003555912
dbSNP Id:
rs119471021
gnomAD v4:
22-26457923-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.26457923G>A , CM000684.2:g.26457923G>A | GRCh38 |
| NC_000022.10:g.26853889G>A , CM000684.1:g.26853889G>A | GRCh37 |
| NC_000022.9:g.25183889G>A | NCBI36 |
| NG_009763.2:g.30941C>T , LRG_590:g.30941C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000422379.3:c.1945C>T | ENSP00000415081.3:p.Gln649Ter | |
| ENST00000473782.2:c.1891C>T | ENSP00000514223.1:p.Gln631Ter | |
| ENST00000483631.2:c.1096C>T | ENSP00000514228.1:p.Gln366Ter | |
| ENST00000491142.2:c.1891C>T | ENSP00000514221.1:p.Gln631Ter | |
| ENST00000699226.1:n.4817C>T | ||
| ENST00000699227.1:c.*1235C>T | ENSP00000514220.1:n.*1235C>T | |
| ENST00000699228.1:n.2441C>T | ||
| ENST00000699229.1:n.1308C>T | ||
| ENST00000699230.1:n.2614C>T | ||
| ENST00000699231.1:n.4903C>T | ||
| ENST00000699232.1:n.3247C>T | ||
| ENST00000699233.1:n.1762C>T | ||
| ENST00000699234.1:c.*1235C>T | ENSP00000514222.1:n.*1235C>T | |
| ENST00000699235.1:c.1096C>T | ENSP00000514224.1:p.Gln366Ter | |
| ENST00000699236.1:c.*1080C>T | ENSP00000514225.1:n.*1080C>T | |
| ENST00000699237.1:c.*1080C>T | ENSP00000514226.1:n.*1080C>T | |
| ENST00000699238.1:c.*1434C>T | ENSP00000514227.1:n.*1434C>T | |
| ENST00000699239.1:n.4645C>T | ||
| ENST00000699240.1:c.*1548C>T | ENSP00000514229.1:n.*1548C>T | |
| ENST00000699241.1:c.*2083C>T | ENSP00000514230.1:n.*2083C>T | |
| ENST00000699242.1:c.1801C>T | ENSP00000514231.1:p.Gln601Ter | |
| ENST00000699243.1:c.*1235C>T | ENSP00000514232.1:n.*1235C>T | |
| ENST00000699244.1:c.1744C>T | ENSP00000514233.1:p.Gln582Ter | |
| ENST00000699245.1:n.1183C>T | ||
| ENST00000699246.1:c.*1262C>T | ENSP00000514234.1:n.*1262C>T | |
| ENST00000699247.1:c.847C>T | ENSP00000514235.1:p.Gln283Ter | |
| ENST00000699248.1:n.3784-4519C>T | ||
| ENST00000699249.1:c.*1058-4519C>T | ENSP00000514236.1:n.*1058-4519C>T | |
| ENST00000699250.1:c.1714-4519C>T | ENSP00000514237.1:n.1714-4519C>T | |
| ENST00000699251.1:c.1891C>T | ENSP00000514238.1:p.Gln631Ter | |
| ENST00000699252.1:n.2441C>T | ||
| ENST00000398145.7:c.1891C>T MANE Select | ENSP00000381213.2:p.Gln631Ter | |
| ENST00000336873.9:c.1891C>T | ENSP00000338457.5:p.Gln631Ter | |
| ENST00000398145.6:c.1891C>T | ENSP00000381213.2:p.Gln631Ter | |
| ENST00000402105.7:c.1876C>T | ENSP00000384185.3:p.Gln626Ter | |
| ENST00000429411.5:c.*1463C>T | ENSP00000399705.1:n.*1463C>T | |
| ENST00000439453.5:c.*1409C>T | ENSP00000406764.1:n.*1409C>T | |
| ENST00000464362.5:c.*2222C>T | ENSP00000430291.1:n.*2222C>T | |
| ENST00000466781.5:n.4750C>T | ||
| ENST00000485842.5:n.582C>T | ||
| ENST00000493455.6:n.454C>T | ||
| ENST00000496385.5:n.2480-4519C>T | ||
| ENST00000519774.5:n.277C>T | ||
| NM_022081.5:c.1891C>T , LRG_590t1:c.1891C>T | NP_071364.4:p.Gln631Ter | |
| NM_152841.2:c.1876C>T , LRG_590t2:c.1876C>T | NP_690054.1:p.Gln626Ter | |
| NR_073135.1:n.2577C>T | ||
| NR_073136.1:n.2339C>T | ||
| XM_006724353.2:c.1945C>T | XP_006724416.1:p.Gln649Ter | |
| XM_006724354.2:c.1945C>T | XP_006724417.1:p.Gln649Ter | |
| XM_006724360.2:c.1378C>T | XP_006724423.1:p.Gln460Ter | |
| XM_011530485.1:c.2023C>T | XP_011528787.1:p.Gln675Ter | |
| XM_011530486.1:c.2023C>T | XP_011528788.1:p.Gln675Ter | |
| XM_011530487.1:c.2023C>T | XP_011528789.1:p.Gln675Ter | |
| XM_011530488.1:c.2023C>T | XP_011528790.1:p.Gln675Ter | |
| XM_011530489.1:c.2023C>T | XP_011528791.1:p.Gln675Ter | |
| XM_011530490.1:c.1969C>T | XP_011528792.1:p.Gln657Ter | |
| XM_011530491.1:c.2023C>T | XP_011528793.1:p.Gln675Ter | |
| XM_011530492.1:c.2023C>T | XP_011528794.1:p.Gln675Ter | |
| XM_011530493.1:c.1846-4519C>T | XP_011528795.1:n.1846-4519C>T | |
| XM_011530494.1:c.1231C>T | XP_011528796.1:p.Gln411Ter | |
| XM_011530495.1:c.1378C>T | XP_011528797.1:p.Gln460Ter | |
| XM_011530496.1:c.1231C>T | XP_011528798.1:p.Gln411Ter | |
| XR_937947.1:n.2682C>T | ||
| NM_001349896.1:c.1891C>T | NP_001336825.1:p.Gln631Ter | |
| NM_001349898.1:c.1891C>T | NP_001336827.1:p.Gln631Ter | |
| NM_001349899.1:c.1891C>T | NP_001336828.1:p.Gln631Ter | |
| NM_001349900.1:c.1945C>T | NP_001336829.1:p.Gln649Ter | |
| NM_001349901.1:c.1945C>T | NP_001336830.1:p.Gln649Ter | |
| NM_001349902.1:c.1714-4519C>T | NP_001336831.1:n.1714-4519C>T | |
| NM_001349903.1:c.1714-4519C>T | NP_001336832.1:n.1714-4519C>T | |
| NM_001349904.1:c.1891C>T | NP_001336833.1:p.Gln631Ter | |
| NM_001349905.1:c.1891C>T | NP_001336834.1:p.Gln631Ter | |
| NR_146311.1:n.2668C>T | ||
| NR_146312.1:n.2493C>T | ||
| NR_146313.1:n.2513C>T | ||
| NR_146314.1:n.2644C>T | ||
| NR_146315.1:n.2584C>T | ||
| NR_146316.1:n.2559C>T | ||
| XM_006724360.3:c.1378C>T | XP_006724423.1:p.Gln460Ter | |
| XM_011530485.2:c.2023C>T | XP_011528787.1:p.Gln675Ter | |
| XM_011530486.2:c.2023C>T | XP_011528788.1:p.Gln675Ter | |
| XM_011530487.2:c.2023C>T | XP_011528789.1:p.Gln675Ter | |
| XM_011530488.2:c.2023C>T | XP_011528790.1:p.Gln675Ter | |
| XM_011530489.2:c.2023C>T | XP_011528791.1:p.Gln675Ter | |
| XM_011530490.3:c.1969C>T | XP_011528792.1:p.Gln657Ter | |
| XM_011530491.3:c.2023C>T | XP_011528793.1:p.Gln675Ter | |
| XM_011530492.2:c.2023C>T | XP_011528794.1:p.Gln675Ter | |
| XM_011530493.3:c.1846-4519C>T | XP_011528795.1:n.1846-4519C>T | |
| XM_011530494.2:c.1231C>T | XP_011528796.1:p.Gln411Ter | |
| XM_011530495.2:c.1378C>T | XP_011528797.1:p.Gln460Ter | |
| XM_011530496.2:c.1231C>T | XP_011528798.1:p.Gln411Ter | |
| XM_017029045.2:c.1969C>T | XP_016884534.1:p.Gln657Ter | |
| XM_017029046.2:c.1891C>T | XP_016884535.1:p.Gln631Ter | |
| XM_017029047.2:c.1792-4519C>T | XP_016884536.1:n.1792-4519C>T | |
| XM_017029052.2:c.1483C>T | XP_016884541.1:p.Gln495Ter | |
| XM_017029053.1:c.1468C>T | XP_016884542.1:p.Gln490Ter | |
| XM_017029056.2:c.1096C>T | XP_016884545.1:p.Gln366Ter | |
| XM_017029061.2:c.1096C>T | XP_016884550.1:p.Gln366Ter | |
| XM_017029062.2:c.1096C>T | XP_016884551.1:p.Gln366Ter | |
| XM_017029063.2:c.1096C>T | XP_016884552.1:p.Gln366Ter | |
| XM_017029064.2:c.1096C>T | XP_016884553.1:p.Gln366Ter | |
| XM_024452298.1:c.1264C>T | XP_024308066.1:p.Gln422Ter | |
| XM_024452299.1:c.1096C>T | XP_024308067.1:p.Gln366Ter | |
| XM_024452300.1:c.1096C>T | XP_024308068.1:p.Gln366Ter | |
| XR_001755361.2:n.2599C>T | ||
| XR_001755364.1:n.2278-4519C>T | ||
| XR_001755366.2:n.3128C>T | ||
| XR_002958721.1:n.2500-4519C>T | ||
| XR_937947.2:n.2677C>T | ||
| NM_001349898.2:c.1891C>T | NP_001336827.1:p.Gln631Ter | |
| NM_001349899.2:c.1891C>T | NP_001336828.1:p.Gln631Ter | |
| NM_001349900.2:c.1945C>T | NP_001336829.1:p.Gln649Ter | |
| NM_001349903.2:c.1714-4519C>T | NP_001336832.1:n.1714-4519C>T | |
| NM_001349904.2:c.1891C>T | NP_001336833.1:p.Gln631Ter | |
| NR_073136.2:n.2146C>T | ||
| NR_146311.2:n.2588C>T | ||
| NR_146313.2:n.2433C>T | ||
| NR_146315.2:n.2504C>T | ||
| NM_022081.6:c.1891C>T MANE Select | NP_071364.4:p.Gln631Ter | |
| NR_146316.2:n.2479C>T |