Linked Data
ClinVar Variation Id:
50819
dbSNP Id:
rs768241563
ExAC:
22:32150928 C / G
gnomAD v3:
22-31754942-C-G
gnomAD v4:
22-31754942-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.31754942C>G , CM000684.2:g.31754942C>G | GRCh38 |
| NC_000022.10:g.32150928C>G , CM000684.1:g.32150928C>G | GRCh37 |
| NC_000022.9:g.30480928C>G | NCBI36 |
| NG_034067.1:g.5992C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000382112.8:c.21C>G | ENSP00000371546.4:p.Tyr7Ter | |
| ENST00000400242.8:c.21C>G | ENSP00000383101.3:p.Tyr7Ter | |
| ENST00000400246.7:c.21C>G | ENSP00000383105.3:p.Tyr7Ter | |
| ENST00000400248.7:c.21C>G | ENSP00000383107.1:p.Tyr7Ter | |
| ENST00000400249.7:c.21C>G | ENSP00000383108.3:p.Tyr7Ter | |
| ENST00000433147.2:c.21C>G | ENSP00000410544.2:p.Tyr7Ter | |
| ENST00000437411.6:c.21C>G | ENSP00000416314.2:p.Tyr7Ter | |
| ENST00000456178.6:c.-338C>G | ENSP00000405351.2:n.-338C>G | |
| ENST00000469969.2:n.110C>G | ||
| ENST00000535622.6:c.21C>G | ENSP00000440210.1:p.Tyr7Ter | |
| ENST00000642684.1:c.21C>G | ENSP00000494554.1:p.Tyr7Ter | |
| ENST00000642696.1:c.21C>G | ENSP00000495917.1:p.Tyr7Ter | |
| ENST00000642771.1:c.21C>G | ENSP00000496278.1:p.Tyr7Ter | |
| ENST00000642974.1:c.21C>G | ENSP00000496395.1:p.Tyr7Ter | |
| ENST00000643166.1:n.192C>G | ||
| ENST00000643395.1:c.21C>G | ENSP00000496630.1:p.Tyr7Ter | |
| ENST00000643751.2:c.21C>G | ENSP00000495496.1:p.Tyr7Ter | |
| ENST00000643948.1:n.123C>G | ||
| ENST00000644162.1:c.21C>G | ENSP00000495371.1:p.Tyr7Ter | |
| ENST00000644331.1:c.21C>G | ENSP00000494406.1:p.Tyr7Ter | |
| ENST00000645015.1:c.21C>G | ENSP00000494299.1:p.Tyr7Ter | |
| ENST00000645407.1:c.21C>G | ENSP00000496252.1:p.Tyr7Ter | |
| ENST00000645494.1:c.21C>G | ENSP00000495338.1:p.Tyr7Ter | |
| ENST00000645560.1:c.21C>G | ENSP00000495544.1:p.Tyr7Ter | |
| ENST00000645564.1:c.21C>G | ENSP00000494484.1:p.Tyr7Ter | |
| ENST00000645693.1:c.21C>G | ENSP00000496281.1:p.Tyr7Ter | |
| ENST00000645711.1:c.21C>G | ENSP00000493489.1:p.Tyr7Ter | |
| ENST00000645755.1:c.21C>G | ENSP00000495873.1:p.Tyr7Ter | |
| ENST00000645967.1:c.21C>G | ENSP00000495187.1:p.Tyr7Ter | |
| ENST00000646465.1:c.21C>G | ENSP00000495655.1:p.Tyr7Ter | |
| ENST00000646515.1:c.21C>G | ENSP00000494700.1:p.Tyr7Ter | |
| ENST00000646701.1:c.21C>G | ENSP00000496158.1:p.Tyr7Ter | |
| ENST00000646755.1:c.21C>G | ENSP00000496532.1:p.Tyr7Ter | |
| ENST00000646969.1:c.21C>G | ENSP00000496724.1:p.Tyr7Ter | |
| ENST00000646998.1:c.21C>G | ENSP00000494662.1:p.Tyr7Ter | |
| ENST00000647343.1:c.21C>G | ENSP00000494879.1:p.Tyr7Ter | |
| ENST00000647438.1:c.21C>G | ENSP00000494714.1:p.Tyr7Ter | |
| ENST00000651528.2:c.21C>G MANE Select | ENSP00000498382.1:p.Tyr7Ter | |
| ENST00000382111.6:c.21C>G | ENSP00000371545.2:p.Tyr7Ter | |
| ENST00000382112.7:c.21C>G | ENSP00000371546.3:p.Tyr7Ter | |
| ENST00000400242.7:c.21C>G | ENSP00000383101.3:p.Tyr7Ter | |
| ENST00000400246.5:c.21C>G | ENSP00000383105.2:p.Tyr7Ter | |
| ENST00000400248.6:c.21C>G | ENSP00000383107.1:p.Tyr7Ter | |
| ENST00000400249.6:c.21C>G | ENSP00000383108.2:p.Tyr7Ter | |
| ENST00000437411.5:c.21C>G | ENSP00000416314.1:p.Tyr7Ter | |
| ENST00000456178.5:c.21C>G | ENSP00000405351.1:p.Tyr7Ter | |
| ENST00000469969.1:n.108C>G | ||
| ENST00000535622.5:c.21C>G | ENSP00000440210.1:p.Tyr7Ter | |
| NM_001007188.2:c.21C>G | NP_001007189.1:p.Tyr7Ter | |
| NM_001136029.2:c.21C>G | NP_001129501.1:p.Tyr7Ter | |
| NM_001242896.1:c.21C>G | NP_001229825.1:p.Tyr7Ter | |
| NM_001242897.1:c.21C>G | NP_001229826.1:p.Tyr7Ter | |
| NM_014662.4:c.21C>G | NP_055477.1:p.Tyr7Ter | |
| NR_110988.1:n.223C>G | ||
| XM_005261862.1:c.21C>G | XP_005261919.1:p.Tyr7Ter | |
| XM_011530557.1:c.21C>G | XP_011528859.1:p.Tyr7Ter | |
| XM_011530558.1:c.21C>G | XP_011528860.1:p.Tyr7Ter | |
| XM_011530559.1:c.21C>G | XP_011528861.1:p.Tyr7Ter | |
| XM_011530560.1:c.21C>G | XP_011528862.1:p.Tyr7Ter | |
| XM_011530561.1:c.21C>G | XP_011528863.1:p.Tyr7Ter | |
| XM_011530562.1:c.21C>G | XP_011528864.1:p.Tyr7Ter | |
| XM_011530563.1:c.21C>G | XP_011528865.1:p.Tyr7Ter | |
| XM_011530564.1:c.21C>G | XP_011528866.1:p.Tyr7Ter | |
| XM_011530565.1:c.21C>G | XP_011528867.1:p.Tyr7Ter | |
| XM_011530566.1:c.21C>G | XP_011528868.1:p.Tyr7Ter | |
| XM_011530567.1:c.21C>G | XP_011528869.1:p.Tyr7Ter | |
| XM_011530568.1:c.21C>G | XP_011528870.1:p.Tyr7Ter | |
| XR_937972.1:n.218C>G | ||
| XR_937973.1:n.218C>G | ||
| NM_001007188.3:c.21C>G | NP_001007189.1:p.Tyr7Ter | |
| NM_001136029.3:c.21C>G | NP_001129501.1:p.Tyr7Ter | |
| NM_001242896.2:c.21C>G | NP_001229825.1:p.Tyr7Ter | |
| NM_001363852.1:c.21C>G | NP_001350781.1:p.Tyr7Ter | |
| NM_001363854.1:c.21C>G | NP_001350783.1:p.Tyr7Ter | |
| NM_001364318.1:c.21C>G | NP_001351247.1:p.Tyr7Ter | |
| NM_001364319.1:c.21C>G | NP_001351248.1:p.Tyr7Ter | |
| NM_001364320.1:c.21C>G | NP_001351249.1:p.Tyr7Ter | |
| NM_014662.5:c.21C>G | NP_055477.1:p.Tyr7Ter | |
| NR_110988.2:n.227C>G | ||
| NR_146296.1:n.127C>G | ||
| NR_157125.1:n.110C>G | ||
| NR_157126.1:n.110C>G | ||
| NR_157128.1:n.227C>G | ||
| XM_011530557.2:c.21C>G | XP_011528859.1:p.Tyr7Ter | |
| XM_011530559.2:c.21C>G | XP_011528861.1:p.Tyr7Ter | |
| XM_011530561.2:c.21C>G | XP_011528863.1:p.Tyr7Ter | |
| XM_011530562.2:c.21C>G | XP_011528864.1:p.Tyr7Ter | |
| XM_011530563.2:c.21C>G | XP_011528865.1:p.Tyr7Ter | |
| XM_011530565.2:c.21C>G | XP_011528867.1:p.Tyr7Ter | |
| XM_011530568.2:c.21C>G | XP_011528870.1:p.Tyr7Ter | |
| XM_017029113.1:c.21C>G | XP_016884602.1:p.Tyr7Ter | |
| XM_017029114.1:c.21C>G | XP_016884603.1:p.Tyr7Ter | |
| XM_017029115.1:c.21C>G | XP_016884604.1:p.Tyr7Ter | |
| XR_001755389.1:n.230C>G | ||
| XR_001755390.1:n.230C>G | ||
| XR_937973.2:n.230C>G | ||
| NM_001242896.3:c.21C>G MANE Select | NP_001229825.1:p.Tyr7Ter | |
| NM_001242897.2:c.21C>G | NP_001229826.1:p.Tyr7Ter | |
| NM_001363852.2:c.21C>G | NP_001350781.1:p.Tyr7Ter | |
| NM_001363854.2:c.21C>G | NP_001350783.1:p.Tyr7Ter | |
| NM_001369901.1:c.21C>G | NP_001356830.1:p.Tyr7Ter | |
| NM_001369902.1:c.21C>G | NP_001356831.1:p.Tyr7Ter | |
| NM_001369903.1:c.21C>G | NP_001356832.1:p.Tyr7Ter | |
| NR_146296.2:n.110C>G | ||
| NM_001007188.4:c.21C>G | NP_001007189.1:p.Tyr7Ter | |
| NM_001136029.4:c.21C>G | NP_001129501.1:p.Tyr7Ter | |
| NM_001364318.2:c.21C>G | NP_001351247.1:p.Tyr7Ter | |
| NM_001364319.2:c.21C>G | NP_001351248.1:p.Tyr7Ter | |
| NM_001364320.2:c.21C>G | NP_001351249.1:p.Tyr7Ter | |
| NM_014662.6:c.21C>G | NP_055477.1:p.Tyr7Ter | |
| NR_157125.2:n.110C>G | ||
| NR_157126.2:n.110C>G |