Linked Data
ClinVar Variation Id:
163670
dbSNP Id:
rs1894704
ExAC:
22:26853905 C / A
gnomAD v2:
22-26853905-C-A
gnomAD v3:
22-26457939-C-A
gnomAD v4:
22-26457939-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.26457939C>A , CM000684.2:g.26457939C>A | GRCh38 |
| NC_000022.10:g.26853905C>A , CM000684.1:g.26853905C>A | GRCh37 |
| NC_000022.9:g.25183905C>A | NCBI36 |
| NG_009763.2:g.30925G>T , LRG_590:g.30925G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000422379.3:c.1929G>T | ENSP00000415081.3:p.Gln643His | |
| ENST00000473782.2:c.1875G>T | ENSP00000514223.1:p.Gln625His | |
| ENST00000483631.2:c.1080G>T | ENSP00000514228.1:p.Gln360His | |
| ENST00000491142.2:c.1875G>T | ENSP00000514221.1:p.Gln625His | |
| ENST00000699226.1:n.4801G>T | ||
| ENST00000699227.1:c.*1219G>T | ENSP00000514220.1:n.*1219G>T | |
| ENST00000699228.1:n.2425G>T | ||
| ENST00000699229.1:n.1292G>T | ||
| ENST00000699230.1:n.2598G>T | ||
| ENST00000699231.1:n.4887G>T | ||
| ENST00000699232.1:n.3231G>T | ||
| ENST00000699233.1:n.1746G>T | ||
| ENST00000699234.1:c.*1219G>T | ENSP00000514222.1:n.*1219G>T | |
| ENST00000699235.1:c.1080G>T | ENSP00000514224.1:p.Gln360His | |
| ENST00000699236.1:c.*1064G>T | ENSP00000514225.1:n.*1064G>T | |
| ENST00000699237.1:c.*1064G>T | ENSP00000514226.1:n.*1064G>T | |
| ENST00000699238.1:c.*1418G>T | ENSP00000514227.1:n.*1418G>T | |
| ENST00000699239.1:n.4629G>T | ||
| ENST00000699240.1:c.*1532G>T | ENSP00000514229.1:n.*1532G>T | |
| ENST00000699241.1:c.*2067G>T | ENSP00000514230.1:n.*2067G>T | |
| ENST00000699242.1:c.1785G>T | ENSP00000514231.1:p.Gln595His | |
| ENST00000699243.1:c.*1219G>T | ENSP00000514232.1:n.*1219G>T | |
| ENST00000699244.1:c.1728G>T | ENSP00000514233.1:p.Gln576His | |
| ENST00000699245.1:n.1167G>T | ||
| ENST00000699246.1:c.*1246G>T | ENSP00000514234.1:n.*1246G>T | |
| ENST00000699247.1:c.831G>T | ENSP00000514235.1:p.Gln277His | |
| ENST00000699248.1:n.3784-4535G>T | ||
| ENST00000699249.1:c.*1058-4535G>T | ENSP00000514236.1:n.*1058-4535G>T | |
| ENST00000699250.1:c.1714-4535G>T | ENSP00000514237.1:n.1714-4535G>T | |
| ENST00000699251.1:c.1875G>T | ENSP00000514238.1:p.Gln625His | |
| ENST00000699252.1:n.2425G>T | ||
| ENST00000398145.7:c.1875G>T MANE Select | ENSP00000381213.2:p.Gln625His | |
| ENST00000336873.9:c.1875G>T | ENSP00000338457.5:p.Gln625His | |
| ENST00000398145.6:c.1875G>T | ENSP00000381213.2:p.Gln625His | |
| ENST00000402105.7:c.1860G>T | ENSP00000384185.3:p.Gln620His | |
| ENST00000429411.5:c.*1447G>T | ENSP00000399705.1:n.*1447G>T | |
| ENST00000439453.5:c.*1393G>T | ENSP00000406764.1:n.*1393G>T | |
| ENST00000464362.5:c.*2206G>T | ENSP00000430291.1:n.*2206G>T | |
| ENST00000466781.5:n.4734G>T | ||
| ENST00000485842.5:n.566G>T | ||
| ENST00000493455.6:n.438G>T | ||
| ENST00000496385.5:n.2480-4535G>T | ||
| ENST00000519774.5:n.261G>T | ||
| NM_022081.5:c.1875G>T , LRG_590t1:c.1875G>T | NP_071364.4:p.Gln625His | |
| NM_152841.2:c.1860G>T , LRG_590t2:c.1860G>T | NP_690054.1:p.Gln620His | |
| NR_073135.1:n.2561G>T | ||
| NR_073136.1:n.2323G>T | ||
| XM_006724353.2:c.1929G>T | XP_006724416.1:p.Gln643His | |
| XM_006724354.2:c.1929G>T | XP_006724417.1:p.Gln643His | |
| XM_006724360.2:c.1362G>T | XP_006724423.1:p.Gln454His | |
| XM_011530485.1:c.2007G>T | XP_011528787.1:p.Gln669His | |
| XM_011530486.1:c.2007G>T | XP_011528788.1:p.Gln669His | |
| XM_011530487.1:c.2007G>T | XP_011528789.1:p.Gln669His | |
| XM_011530488.1:c.2007G>T | XP_011528790.1:p.Gln669His | |
| XM_011530489.1:c.2007G>T | XP_011528791.1:p.Gln669His | |
| XM_011530490.1:c.1953G>T | XP_011528792.1:p.Gln651His | |
| XM_011530491.1:c.2007G>T | XP_011528793.1:p.Gln669His | |
| XM_011530492.1:c.2007G>T | XP_011528794.1:p.Gln669His | |
| XM_011530493.1:c.1846-4535G>T | XP_011528795.1:n.1846-4535G>T | |
| XM_011530494.1:c.1215G>T | XP_011528796.1:p.Gln405His | |
| XM_011530495.1:c.1362G>T | XP_011528797.1:p.Gln454His | |
| XM_011530496.1:c.1215G>T | XP_011528798.1:p.Gln405His | |
| XR_937947.1:n.2666G>T | ||
| NM_001349896.1:c.1875G>T | NP_001336825.1:p.Gln625His | |
| NM_001349898.1:c.1875G>T | NP_001336827.1:p.Gln625His | |
| NM_001349899.1:c.1875G>T | NP_001336828.1:p.Gln625His | |
| NM_001349900.1:c.1929G>T | NP_001336829.1:p.Gln643His | |
| NM_001349901.1:c.1929G>T | NP_001336830.1:p.Gln643His | |
| NM_001349902.1:c.1714-4535G>T | NP_001336831.1:n.1714-4535G>T | |
| NM_001349903.1:c.1714-4535G>T | NP_001336832.1:n.1714-4535G>T | |
| NM_001349904.1:c.1875G>T | NP_001336833.1:p.Gln625His | |
| NM_001349905.1:c.1875G>T | NP_001336834.1:p.Gln625His | |
| NR_146311.1:n.2652G>T | ||
| NR_146312.1:n.2477G>T | ||
| NR_146313.1:n.2497G>T | ||
| NR_146314.1:n.2628G>T | ||
| NR_146315.1:n.2568G>T | ||
| NR_146316.1:n.2543G>T | ||
| XM_006724360.3:c.1362G>T | XP_006724423.1:p.Gln454His | |
| XM_011530485.2:c.2007G>T | XP_011528787.1:p.Gln669His | |
| XM_011530486.2:c.2007G>T | XP_011528788.1:p.Gln669His | |
| XM_011530487.2:c.2007G>T | XP_011528789.1:p.Gln669His | |
| XM_011530488.2:c.2007G>T | XP_011528790.1:p.Gln669His | |
| XM_011530489.2:c.2007G>T | XP_011528791.1:p.Gln669His | |
| XM_011530490.3:c.1953G>T | XP_011528792.1:p.Gln651His | |
| XM_011530491.3:c.2007G>T | XP_011528793.1:p.Gln669His | |
| XM_011530492.2:c.2007G>T | XP_011528794.1:p.Gln669His | |
| XM_011530493.3:c.1846-4535G>T | XP_011528795.1:n.1846-4535G>T | |
| XM_011530494.2:c.1215G>T | XP_011528796.1:p.Gln405His | |
| XM_011530495.2:c.1362G>T | XP_011528797.1:p.Gln454His | |
| XM_011530496.2:c.1215G>T | XP_011528798.1:p.Gln405His | |
| XM_017029045.2:c.1953G>T | XP_016884534.1:p.Gln651His | |
| XM_017029046.2:c.1875G>T | XP_016884535.1:p.Gln625His | |
| XM_017029047.2:c.1792-4535G>T | XP_016884536.1:n.1792-4535G>T | |
| XM_017029052.2:c.1467G>T | XP_016884541.1:p.Gln489His | |
| XM_017029053.1:c.1452G>T | XP_016884542.1:p.Gln484His | |
| XM_017029056.2:c.1080G>T | XP_016884545.1:p.Gln360His | |
| XM_017029061.2:c.1080G>T | XP_016884550.1:p.Gln360His | |
| XM_017029062.2:c.1080G>T | XP_016884551.1:p.Gln360His | |
| XM_017029063.2:c.1080G>T | XP_016884552.1:p.Gln360His | |
| XM_017029064.2:c.1080G>T | XP_016884553.1:p.Gln360His | |
| XM_024452298.1:c.1248G>T | XP_024308066.1:p.Gln416His | |
| XM_024452299.1:c.1080G>T | XP_024308067.1:p.Gln360His | |
| XM_024452300.1:c.1080G>T | XP_024308068.1:p.Gln360His | |
| XR_001755361.2:n.2583G>T | ||
| XR_001755364.1:n.2278-4535G>T | ||
| XR_001755366.2:n.3112G>T | ||
| XR_002958721.1:n.2500-4535G>T | ||
| XR_937947.2:n.2661G>T | ||
| NM_001349898.2:c.1875G>T | NP_001336827.1:p.Gln625His | |
| NM_001349899.2:c.1875G>T | NP_001336828.1:p.Gln625His | |
| NM_001349900.2:c.1929G>T | NP_001336829.1:p.Gln643His | |
| NM_001349903.2:c.1714-4535G>T | NP_001336832.1:n.1714-4535G>T | |
| NM_001349904.2:c.1875G>T | NP_001336833.1:p.Gln625His | |
| NR_073136.2:n.2130G>T | ||
| NR_146311.2:n.2572G>T | ||
| NR_146313.2:n.2417G>T | ||
| NR_146315.2:n.2488G>T | ||
| NM_022081.6:c.1875G>T MANE Select | NP_071364.4:p.Gln625His | |
| NR_146316.2:n.2463G>T |