Linked Data
ClinVar Variation Id:
297073
dbSNP Id:
rs768075911
ExAC:
1:26774077 C / T
gnomAD v2:
1-26774077-C-T
gnomAD v4:
1-26447586-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.26447586C>T , CM000663.2:g.26447586C>T | GRCh38 |
| NC_000001.10:g.26774077C>T , CM000663.1:g.26774077C>T | GRCh37 |
| NC_000001.9:g.26646664C>T | NCBI36 |
| NG_029786.1:g.20305C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000528557.6:c.468C>T | ENSP00000515248.1:p.Tyr156= | |
| ENST00000703198.1:c.468C>T | ENSP00000515227.1:p.Tyr156= | |
| ENST00000703199.1:c.323+4713C>T | ENSP00000515228.1:n.323+4713C>T | |
| ENST00000703200.1:c.*226C>T | ENSP00000515229.1:n.*226C>T | |
| ENST00000703201.1:c.*1414C>T | ENSP00000515230.1:n.*1414C>T | |
| ENST00000703202.1:c.181-5895C>T | ENSP00000515231.1:n.181-5895C>T | |
| ENST00000703203.1:c.*1414C>T | ENSP00000515232.1:n.*1414C>T | |
| ENST00000703262.1:c.468C>T | ENSP00000515247.1:p.Tyr156= | |
| ENST00000703263.1:c.468C>T | ENSP00000515249.1:p.Tyr156= | |
| ENST00000703264.1:n.796C>T | ||
| ENST00000236342.12:c.468C>T MANE Select | ENSP00000236342.7:p.Tyr156= | |
| ENST00000236342.11:c.468C>T | ENSP00000236342.7:p.Tyr156= | |
| ENST00000360009.6:c.468C>T | ENSP00000353104.2:p.Tyr156= | |
| ENST00000374185.7:c.468C>T | ENSP00000363300.3:p.Tyr156= | |
| ENST00000416052.1:c.97C>T | ||
| ENST00000427245.6:c.468C>T | ENSP00000399177.2:p.Tyr156= | |
| ENST00000430232.5:c.351C>T | ENSP00000397584.1:p.Tyr117= | |
| ENST00000431933.5:c.155+1154C>T | ENSP00000399781.1:n.155+1154C>T | |
| ENST00000434391.6:c.*269C>T | ENSP00000403529.2:n.*269C>T | |
| ENST00000436153.6:c.468C>T | ENSP00000405604.2:p.Tyr156= | |
| ENST00000525682.6:c.440+1154C>T | ENSP00000434984.1:n.440+1154C>T | |
| ENST00000526219.5:c.351C>T | ENSP00000434219.1:p.Tyr117= | |
| ENST00000533087.5:c.468C>T | ENSP00000436119.1:p.Tyr156= | |
| NM_001243564.1:c.440+1154C>T | NP_001230493.1:n.440+1154C>T | |
| NM_001243565.1:c.351C>T | NP_001230494.1:p.Tyr117= | |
| NM_024887.3:c.468C>T | NP_079163.2:p.Tyr156= | |
| NM_205861.2:c.468C>T | NP_995583.1:p.Tyr156= | |
| XM_006710912.1:c.468C>T | XP_006710975.1:p.Tyr156= | |
| XM_006710913.1:c.468C>T | XP_006710976.1:p.Tyr156= | |
| XM_006710914.1:c.468C>T | XP_006710977.1:p.Tyr156= | |
| XM_006710915.1:c.440+1154C>T | XP_006710978.1:n.440+1154C>T | |
| XM_006710916.1:c.189C>T | XP_006710979.1:p.Tyr63= | |
| XM_006710917.1:c.189C>T | XP_006710980.1:p.Tyr63= | |
| XM_006710918.1:c.189C>T | XP_006710981.1:p.Tyr63= | |
| XM_006710919.1:c.189C>T | XP_006710982.1:p.Tyr63= | |
| XM_011542183.1:c.468C>T | XP_011540485.1:p.Tyr156= | |
| XM_011542184.1:c.468C>T | XP_011540486.1:p.Tyr156= | |
| XM_011542185.1:c.440+1154C>T | XP_011540487.1:n.440+1154C>T | |
| XM_011542186.1:c.440+1154C>T | XP_011540488.1:n.440+1154C>T | |
| NM_001319959.1:c.189C>T | NP_001306888.1:p.Tyr63= | |
| NM_205861.3:c.468C>T MANE Select | NP_995583.1:p.Tyr156= | |
| NM_001243564.2:c.440+1154C>T | NP_001230493.1:n.440+1154C>T | |
| NM_001243565.2:c.351C>T | NP_001230494.1:p.Tyr117= | |
| NM_001319959.2:c.189C>T | NP_001306888.1:p.Tyr63= | |
| NM_024887.4:c.468C>T | NP_079163.2:p.Tyr156= |