Linked Data
ClinVar Variation Id:
4130
dbSNP Id:
rs119471023
ExAC:
22:26864537 G / A
gnomAD v2:
22-26864537-G-A
gnomAD v3:
22-26468571-G-A
gnomAD v4:
22-26468571-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.26468571G>A , CM000684.2:g.26468571G>A | GRCh38 |
| NC_000022.10:g.26864537G>A , CM000684.1:g.26864537G>A | GRCh37 |
| NC_000022.9:g.25194537G>A | NCBI36 |
| NG_009763.2:g.20293C>T , LRG_590:g.20293C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000422379.3:c.649C>T | ENSP00000415081.3:p.Arg217Ter | |
| ENST00000473782.2:c.649C>T | ENSP00000514223.1:p.Arg217Ter | |
| ENST00000483631.2:c.-147C>T | ENSP00000514228.1:n.-147C>T | |
| ENST00000491142.2:c.649C>T | ENSP00000514221.1:p.Arg217Ter | |
| ENST00000699226.1:n.613C>T | ||
| ENST00000699227.1:c.649C>T | ENSP00000514220.1:p.Arg217Ter | |
| ENST00000699228.1:n.1199C>T | ||
| ENST00000699230.1:n.698C>T | ||
| ENST00000699231.1:n.699C>T | ||
| ENST00000699232.1:n.703C>T | ||
| ENST00000699233.1:n.520C>T | ||
| ENST00000699234.1:c.634C>T | ENSP00000514222.1:p.Arg212Ter | |
| ENST00000699235.1:c.-127+2148C>T | ENSP00000514224.1:n.-127+2148C>T | |
| ENST00000699236.1:c.649C>T | ENSP00000514225.1:p.Arg217Ter | |
| ENST00000699237.1:c.649C>T | ENSP00000514226.1:p.Arg217Ter | |
| ENST00000699238.1:c.*167C>T | ENSP00000514227.1:n.*167C>T | |
| ENST00000699239.1:n.1115C>T | ||
| ENST00000699240.1:c.*306C>T | ENSP00000514229.1:n.*306C>T | |
| ENST00000699241.1:c.*167C>T | ENSP00000514230.1:n.*167C>T | |
| ENST00000699242.1:c.505C>T | ENSP00000514231.1:p.Arg169Ter | |
| ENST00000699243.1:c.649C>T | ENSP00000514232.1:p.Arg217Ter | |
| ENST00000699244.1:c.649C>T | ENSP00000514233.1:p.Arg217Ter | |
| ENST00000699246.1:c.*167C>T | ENSP00000514234.1:n.*167C>T | |
| ENST00000699247.1:c.649C>T | ENSP00000514235.1:p.Arg217Ter | |
| ENST00000699248.1:n.2719C>T | ||
| ENST00000699249.1:c.649C>T | ENSP00000514236.1:p.Arg217Ter | |
| ENST00000699250.1:c.649C>T | ENSP00000514237.1:p.Arg217Ter | |
| ENST00000699251.1:c.649C>T | ENSP00000514238.1:p.Arg217Ter | |
| ENST00000699252.1:n.1199C>T | ||
| ENST00000398145.7:c.649C>T MANE Select | ENSP00000381213.2:p.Arg217Ter | |
| ENST00000336873.9:c.649C>T | ENSP00000338457.5:p.Arg217Ter | |
| ENST00000398145.6:c.649C>T | ENSP00000381213.2:p.Arg217Ter | |
| ENST00000402105.7:c.634C>T | ENSP00000384185.3:p.Arg212Ter | |
| ENST00000422379.2:c.649C>T | ENSP00000415081.2:p.Arg217Ter | |
| ENST00000429411.5:c.*167C>T | ENSP00000399705.1:n.*167C>T | |
| ENST00000439453.5:c.*167C>T | ENSP00000406764.1:n.*167C>T | |
| ENST00000459918.1:n.468C>T | ||
| ENST00000464362.5:c.*306C>T | ENSP00000430291.1:n.*306C>T | |
| ENST00000466781.5:n.1220C>T | ||
| ENST00000485842.5:n.384C>T | ||
| ENST00000496385.5:n.741C>T | ||
| NM_022081.5:c.649C>T , LRG_590t1:c.649C>T | NP_071364.4:p.Arg217Ter | |
| NM_152841.2:c.634C>T , LRG_590t2:c.634C>T | NP_690054.1:p.Arg212Ter | |
| NR_073135.1:n.1335C>T | ||
| NR_073136.1:n.1043C>T | ||
| XM_006724353.2:c.649C>T | XP_006724416.1:p.Arg217Ter | |
| XM_006724354.2:c.649C>T | XP_006724417.1:p.Arg217Ter | |
| XM_006724360.2:c.-40C>T | XP_006724423.1:n.-40C>T | |
| XM_011530485.1:c.727C>T | XP_011528787.1:p.Arg243Ter | |
| XM_011530486.1:c.727C>T | XP_011528788.1:p.Arg243Ter | |
| XM_011530487.1:c.727C>T | XP_011528789.1:p.Arg243Ter | |
| XM_011530488.1:c.727C>T | XP_011528790.1:p.Arg243Ter | |
| XM_011530489.1:c.727C>T | XP_011528791.1:p.Arg243Ter | |
| XM_011530490.1:c.727C>T | XP_011528792.1:p.Arg243Ter | |
| XM_011530491.1:c.727C>T | XP_011528793.1:p.Arg243Ter | |
| XM_011530492.1:c.727C>T | XP_011528794.1:p.Arg243Ter | |
| XM_011530493.1:c.727C>T | XP_011528795.1:p.Arg243Ter | |
| XM_011530494.1:c.-66C>T | XP_011528796.1:n.-66C>T | |
| XM_011530495.1:c.-65C>T | XP_011528797.1:n.-65C>T | |
| XR_937947.1:n.1386C>T | ||
| NM_001349896.1:c.649C>T | NP_001336825.1:p.Arg217Ter | |
| NM_001349898.1:c.649C>T | NP_001336827.1:p.Arg217Ter | |
| NM_001349899.1:c.649C>T | NP_001336828.1:p.Arg217Ter | |
| NM_001349900.1:c.649C>T | NP_001336829.1:p.Arg217Ter | |
| NM_001349901.1:c.649C>T | NP_001336830.1:p.Arg217Ter | |
| NM_001349902.1:c.649C>T | NP_001336831.1:p.Arg217Ter | |
| NM_001349903.1:c.649C>T | NP_001336832.1:p.Arg217Ter | |
| NM_001349904.1:c.649C>T | NP_001336833.1:p.Arg217Ter | |
| NM_001349905.1:c.649C>T | NP_001336834.1:p.Arg217Ter | |
| NR_146311.1:n.1426C>T | ||
| NR_146312.1:n.1226C>T | ||
| NR_146313.1:n.1246C>T | ||
| NR_146314.1:n.1402C>T | ||
| NR_146315.1:n.1317C>T | ||
| NR_146316.1:n.1317C>T | ||
| XM_006724360.3:c.-40C>T | XP_006724423.1:n.-40C>T | |
| XM_011530485.2:c.727C>T | XP_011528787.1:p.Arg243Ter | |
| XM_011530486.2:c.727C>T | XP_011528788.1:p.Arg243Ter | |
| XM_011530487.2:c.727C>T | XP_011528789.1:p.Arg243Ter | |
| XM_011530488.2:c.727C>T | XP_011528790.1:p.Arg243Ter | |
| XM_011530489.2:c.727C>T | XP_011528791.1:p.Arg243Ter | |
| XM_011530490.3:c.727C>T | XP_011528792.1:p.Arg243Ter | |
| XM_011530491.3:c.727C>T | XP_011528793.1:p.Arg243Ter | |
| XM_011530492.2:c.727C>T | XP_011528794.1:p.Arg243Ter | |
| XM_011530493.3:c.727C>T | XP_011528795.1:p.Arg243Ter | |
| XM_011530494.2:c.-66C>T | XP_011528796.1:n.-66C>T | |
| XM_011530495.2:c.-65C>T | XP_011528797.1:n.-65C>T | |
| XM_017029045.2:c.727C>T | XP_016884534.1:p.Arg243Ter | |
| XM_017029046.2:c.649C>T | XP_016884535.1:p.Arg217Ter | |
| XM_017029047.2:c.727C>T | XP_016884536.1:p.Arg243Ter | |
| XM_017029052.2:c.187C>T | XP_016884541.1:p.Arg63Ter | |
| XM_017029056.2:c.-147C>T | XP_016884545.1:n.-147C>T | |
| XM_017029061.2:c.-172C>T | XP_016884550.1:n.-172C>T | |
| XM_017029062.2:c.-147C>T | XP_016884551.1:n.-147C>T | |
| XM_017029063.2:c.-172C>T | XP_016884552.1:n.-172C>T | |
| XM_017029064.2:c.-147C>T | XP_016884553.1:n.-147C>T | |
| XM_024452298.1:c.-2267C>T | XP_024308066.1:n.-2267C>T | |
| XM_024452299.1:c.-821C>T | XP_024308067.1:n.-821C>T | |
| XM_024452300.1:c.-172C>T | XP_024308068.1:n.-172C>T | |
| XR_001755361.2:n.1303C>T | ||
| XR_001755364.1:n.1213C>T | ||
| XR_001755366.2:n.1212C>T | ||
| XR_002958721.1:n.1381C>T | ||
| XR_937947.2:n.1381C>T | ||
| NM_001349898.2:c.649C>T | NP_001336827.1:p.Arg217Ter | |
| NM_001349899.2:c.649C>T | NP_001336828.1:p.Arg217Ter | |
| NM_001349900.2:c.649C>T | NP_001336829.1:p.Arg217Ter | |
| NM_001349903.2:c.649C>T | NP_001336832.1:p.Arg217Ter | |
| NM_001349904.2:c.649C>T | NP_001336833.1:p.Arg217Ter | |
| NR_073136.2:n.850C>T | ||
| NR_146311.2:n.1346C>T | ||
| NR_146313.2:n.1166C>T | ||
| NR_146315.2:n.1237C>T | ||
| NM_022081.6:c.649C>T MANE Select | NP_071364.4:p.Arg217Ter | |
| NR_146316.2:n.1237C>T |