Linked Data
dbSNP Id:
rs779596970
ExAC:
13:51522138 A / T
gnomAD v2:
13-51522138-A-T
gnomAD v3:
13-50948002-A-T
gnomAD v4:
13-50948002-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.50948002A>T , CM000675.2:g.50948002A>T | GRCh38 |
| NC_000013.10:g.51522138A>T , CM000675.1:g.51522138A>T | GRCh37 |
| NC_000013.9:g.50420139A>T | NCBI36 |
| NG_009055.1:g.43247A>T , LRG_279:g.43247A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336617.8:c.632A>T MANE Select | ENSP00000337623.2:p.Tyr211Phe | |
| ENST00000422660.6:c.632A>T | ENSP00000389877.1:p.Tyr211Phe | |
| ENST00000459681.3:n.315A>T | ||
| ENST00000495244.7:n.643A>T | ||
| ENST00000611510.5:c.542A>T | ENSP00000481236.3:p.Tyr181Phe | |
| ENST00000616907.2:c.632A>T | ENSP00000482701.2:p.Tyr211Phe | |
| ENST00000642207.1:c.371A>T | ||
| ENST00000642454.1:c.542A>T | ENSP00000494221.1:p.Tyr181Phe | |
| ENST00000642721.1:c.632A>T | ENSP00000495650.1:p.Tyr211Phe | |
| ENST00000642995.1:c.515A>T | ENSP00000493499.1:p.Tyr172Phe | |
| ENST00000643159.1:c.542A>T | ENSP00000495587.1:p.Tyr181Phe | |
| ENST00000643215.1:c.502A>T | ||
| ENST00000643405.1:c.280A>T | ||
| ENST00000643529.1:c.145A>T | ||
| ENST00000643682.1:c.632A>T | ENSP00000493655.1:p.Tyr211Phe | |
| ENST00000643774.1:c.596A>T | ENSP00000495482.1:p.Tyr199Phe | |
| ENST00000644034.1:c.80A>T | ENSP00000495456.1:p.Tyr27Phe | |
| ENST00000644183.1:c.522A>T | ENSP00000495657.1:n.522A>T | |
| ENST00000644297.1:c.*490A>T | ENSP00000495519.1:n.*490A>T | |
| ENST00000644420.1:n.658A>T | ||
| ENST00000644425.1:c.583A>T | ||
| ENST00000644518.1:c.*499A>T | ENSP00000495793.1:n.*499A>T | |
| ENST00000645188.1:c.623A>T | ENSP00000496224.1:p.Tyr208Phe | |
| ENST00000645201.1:n.29A>T | ||
| ENST00000645333.1:n.564A>T | ||
| ENST00000645370.1:c.467A>T | ENSP00000494019.1:p.Tyr156Phe | |
| ENST00000645618.1:c.542A>T | ENSP00000495429.1:p.Tyr181Phe | |
| ENST00000645712.1:n.656A>T | ||
| ENST00000645955.1:c.632A>T | ENSP00000495755.1:p.Tyr211Phe | |
| ENST00000645990.1:c.632A>T | ENSP00000496571.1:p.Tyr211Phe | |
| ENST00000646092.1:c.596A>T | ENSP00000496293.1:p.Tyr199Phe | |
| ENST00000646279.1:n.929A>T | ||
| ENST00000646339.1:c.294A>T | ENSP00000495773.1:n.294A>T | |
| ENST00000646709.1:c.542A>T | ENSP00000495278.1:p.Tyr181Phe | |
| ENST00000646731.1:c.623A>T | ENSP00000493828.1:p.Tyr208Phe | |
| ENST00000646960.1:c.632A>T | ENSP00000496481.1:p.Tyr211Phe | |
| ENST00000646964.1:n.1271A>T | ||
| ENST00000647387.1:c.542A>T | ENSP00000495487.1:p.Tyr181Phe | |
| ENST00000336617.7:c.632A>T | ENSP00000337623.2:p.Tyr211Phe | |
| ENST00000422660.5:c.632A>T | ENSP00000389877.1:p.Tyr211Phe | |
| ENST00000495244.6:n.643A>T | ||
| ENST00000611510.4:c.632A>T | ENSP00000481236.2:p.Tyr211Phe | |
| ENST00000613449.4:n.2694A>T | ||
| ENST00000616907.1:c.15A>T | ||
| ENST00000621641.1:n.220A>T | ||
| NM_001142279.2:c.632A>T , LRG_279t1:c.632A>T | NP_001135751.1:p.Tyr211Phe | |
| NM_024570.3:c.632A>T , LRG_279t2:c.632A>T | NP_078846.2:p.Tyr211Phe | |
| XM_005266524.2:c.632A>T | XP_005266581.1:p.Tyr211Phe | |
| XM_005266525.2:c.632A>T | XP_005266582.1:p.Tyr211Phe | |
| XM_006719867.2:c.614A>T | XP_006719930.1:p.Tyr205Phe | |
| XM_011535229.1:c.632A>T | XP_011533531.1:p.Tyr211Phe | |
| XM_011535230.1:c.632A>T | XP_011533532.1:p.Tyr211Phe | |
| XM_011535231.1:c.632A>T | XP_011533533.1:p.Tyr211Phe | |
| XM_011535232.1:c.470A>T | XP_011533534.1:p.Tyr157Phe | |
| XM_011535233.1:c.224A>T | XP_011533535.1:p.Tyr75Phe | |
| XM_006719867.4:c.614A>T | XP_006719930.1:p.Tyr205Phe | |
| XM_011535230.2:c.632A>T | XP_011533532.1:p.Tyr211Phe | |
| XM_011535231.2:c.632A>T | XP_011533533.1:p.Tyr211Phe | |
| XM_011535233.2:c.224A>T | XP_011533535.1:p.Tyr75Phe | |
| XM_017020747.1:c.632A>T | XP_016876236.1:p.Tyr211Phe | |
| NM_024570.4:c.632A>T MANE Select | NP_078846.2:p.Tyr211Phe |