Linked Data
ClinVar Variation Id:
2794009
ClinVar RCV Id:
RCV003672575
dbSNP Id:
rs1443324251
gnomAD v3:
X-19541977-T-C
gnomAD v4:
X-19541977-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.19541977T>C , CM000685.2:g.19541977T>C | GRCh38 |
| NC_000023.10:g.19560095T>C , CM000685.1:g.19560095T>C | GRCh37 |
| NC_000023.9:g.19470016T>C | NCBI36 |
| NG_021367.1:g.350650A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379726.8:c.1972A>G | ENSP00000369049.4:p.Thr658Ala | |
| ENST00000494961.6:c.*1169A>G | ENSP00000514518.1:n.*1169A>G | |
| ENST00000699666.1:c.*552A>G | ENSP00000514509.1:n.*552A>G | |
| ENST00000699667.1:c.*1358A>G | ENSP00000514510.1:n.*1358A>G | |
| ENST00000699668.1:c.1915A>G | ENSP00000514511.1:p.Thr639Ala | |
| ENST00000699669.1:c.*1250A>G | ENSP00000514512.1:n.*1250A>G | |
| ENST00000699670.1:c.1843A>G | ENSP00000514513.1:p.Thr615Ala | |
| ENST00000699671.1:c.1786A>G | ENSP00000514514.1:p.Thr596Ala | |
| ENST00000699672.1:c.*1451A>G | ENSP00000514515.1:n.*1451A>G | |
| ENST00000699673.1:c.1711A>G | ENSP00000514516.1:p.Thr571Ala | |
| ENST00000699674.1:c.1609A>G | ENSP00000514517.1:p.Thr537Ala | |
| ENST00000699675.1:c.*1555A>G | ENSP00000514519.1:n.*1555A>G | |
| ENST00000699676.1:c.1627-4197A>G | ENSP00000514520.1:n.1627-4197A>G | |
| ENST00000699677.1:n.9721A>G | ||
| ENST00000699678.1:c.*875A>G | ENSP00000514521.1:n.*875A>G | |
| ENST00000699679.1:c.1915A>G | ENSP00000514522.1:p.Thr639Ala | |
| ENST00000699720.1:c.1666A>G | ENSP00000514710.1:p.Thr556Ala | |
| ENST00000699721.1:c.1177A>G | ENSP00000514544.1:p.Thr393Ala | |
| ENST00000699722.1:n.1768A>G | ||
| ENST00000699723.1:c.1729A>G | ENSP00000514545.1:p.Thr577Ala | |
| ENST00000699724.1:c.*1763A>G | ENSP00000514546.1:n.*1763A>G | |
| ENST00000699725.1:c.1795A>G | ENSP00000514547.1:p.Thr599Ala | |
| ENST00000699726.1:c.1738A>G | ENSP00000514711.1:p.Thr580Ala | |
| ENST00000699727.1:c.*1712A>G | ENSP00000514548.1:n.*1712A>G | |
| ENST00000699728.1:n.1759A>G | ||
| ENST00000699729.1:c.1534A>G | ENSP00000514549.1:p.Thr512Ala | |
| ENST00000699730.1:c.*1691A>G | ENSP00000514550.1:n.*1691A>G | |
| ENST00000699731.1:c.1516A>G | ENSP00000514551.1:p.Thr506Ala | |
| ENST00000699732.1:c.1609A>G | ENSP00000514712.1:p.Thr537Ala | |
| ENST00000699733.1:c.1609A>G | ENSP00000514713.1:p.Thr537Ala | |
| ENST00000699734.1:c.*1526A>G | ENSP00000514552.1:n.*1526A>G | |
| ENST00000699735.1:c.*1583A>G | ENSP00000514553.1:n.*1583A>G | |
| ENST00000699736.1:n.1133A>G | ||
| ENST00000699737.1:n.5148A>G | ||
| ENST00000699738.1:c.997A>G | ENSP00000514555.1:p.Thr333Ala | |
| ENST00000699739.1:n.747A>G | ||
| ENST00000699740.1:n.841A>G | ||
| ENST00000699741.1:n.563+3945A>G | ||
| ENST00000699742.1:c.1609A>G | ENSP00000514714.1:p.Thr537Ala | |
| ENST00000397821.8:c.1840A>G MANE Select | ENSP00000380921.3:p.Thr614Ala | |
| ENST00000379698.8:c.1729A>G | ENSP00000369020.4:p.Thr577Ala | |
| ENST00000379716.5:c.1126A>G | ENSP00000369039.1:p.Thr376Ala | |
| ENST00000379726.7:c.1780A>G | ENSP00000369049.3:p.Thr594Ala | |
| ENST00000397821.7:c.1840A>G | ENSP00000380921.3:p.Thr614Ala | |
| NM_001024666.2:c.1729A>G | NP_001019837.1:p.Thr577Ala | |
| NM_001184960.1:c.1126A>G | NP_001171889.1:p.Thr376Ala | |
| NM_031892.2:c.1840A>G | NP_114098.1:p.Thr614Ala | |
| XM_005274494.1:c.1915A>G | XP_005274551.1:p.Thr639Ala | |
| XM_011545498.1:c.1972A>G | XP_011543800.1:p.Thr658Ala | |
| XM_011545499.1:c.1861A>G | XP_011543801.1:p.Thr621Ala | |
| XM_011545500.1:c.1843A>G | XP_011543802.1:p.Thr615Ala | |
| XM_011545502.1:c.1177A>G | XP_011543804.1:p.Thr393Ala | |
| NM_001353890.1:c.1711A>G | NP_001340819.1:p.Thr571Ala | |
| NM_001353891.1:c.1915A>G | NP_001340820.1:p.Thr639Ala | |
| NM_001353892.1:c.1786A>G | NP_001340821.1:p.Thr596Ala | |
| NM_001353893.1:c.1738A>G | NP_001340822.1:p.Thr580Ala | |
| NM_001353894.1:c.1609A>G | NP_001340823.1:p.Thr537Ala | |
| NM_001353895.1:c.1666A>G | NP_001340824.1:p.Thr556Ala | |
| NM_001353897.1:c.997A>G | NP_001340826.1:p.Thr333Ala | |
| XM_011545498.3:c.1972A>G | XP_011543800.1:p.Thr658Ala | |
| XM_011545499.3:c.1861A>G | XP_011543801.1:p.Thr621Ala | |
| XM_011545500.3:c.1843A>G | XP_011543802.1:p.Thr615Ala | |
| XM_011545502.2:c.1177A>G | XP_011543804.1:p.Thr393Ala | |
| XM_017029460.1:c.1849A>G | XP_016884949.1:p.Thr617Ala | |
| XM_017029461.1:c.1792A>G | XP_016884950.1:p.Thr598Ala | |
| XM_017029464.2:c.1720A>G | XP_016884953.1:p.Thr574Ala | |
| XM_017029465.2:c.1717A>G | XP_016884954.1:p.Thr573Ala | |
| XM_017029467.2:c.1663A>G | XP_016884956.1:p.Thr555Ala | |
| XM_017029468.2:c.1588A>G | XP_016884957.1:p.Thr530Ala | |
| XM_017029469.1:c.1057A>G | XP_016884958.1:p.Thr353Ala | |
| NM_031892.3:c.1840A>G MANE Select | NP_114098.1:p.Thr614Ala | |
| NM_001024666.3:c.1729A>G | NP_001019837.1:p.Thr577Ala | |
| NM_001184960.2:c.1126A>G | NP_001171889.1:p.Thr376Ala | |
| NM_001353890.2:c.1711A>G | NP_001340819.1:p.Thr571Ala | |
| NM_001353891.2:c.1915A>G | NP_001340820.1:p.Thr639Ala | |
| NM_001353892.2:c.1786A>G | NP_001340821.1:p.Thr596Ala | |
| NM_001353897.2:c.997A>G | NP_001340826.1:p.Thr333Ala | |
| NM_001353893.2:c.1738A>G | NP_001340822.1:p.Thr580Ala | |
| NM_001353894.2:c.1609A>G | NP_001340823.1:p.Thr537Ala | |
| NM_001353895.2:c.1666A>G | NP_001340824.1:p.Thr556Ala |