Linked Data
ClinVar Variation Id:
1353963
ClinVar RCV Id:
RCV001863692
dbSNP Id:
rs751869864
ExAC:
10:71144209 T / C
gnomAD v2:
10-71144209-T-C
gnomAD v3:
10-69384453-T-C
gnomAD v4:
10-69384453-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.69384453T>C , CM000672.2:g.69384453T>C | GRCh38 |
| NC_000010.10:g.71144209T>C , CM000672.1:g.71144209T>C | GRCh37 |
| NC_000010.9:g.70814215T>C | NCBI36 |
| NG_012077.1:g.119454T>C , LRG_365:g.119454T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470050.2:c.1691T>C | ENSP00000515580.1:p.Ile564Thr | |
| ENST00000703945.1:c.1607T>C | ENSP00000515578.1:p.Ile536Thr | |
| ENST00000703946.1:c.1265+4358T>C | ENSP00000515579.1:n.1265+4358T>C | |
| ENST00000703947.1:c.1301T>C | ENSP00000515581.1:p.Ile434Thr | |
| ENST00000703948.1:c.*1308T>C | ENSP00000515582.1:n.*1308T>C | |
| ENST00000703949.1:c.1691T>C | ENSP00000515583.1:p.Ile564Thr | |
| ENST00000703950.1:c.1691T>C | ENSP00000515584.1:p.Ile564Thr | |
| ENST00000703951.1:c.1265+4358T>C | ENSP00000515585.1:n.1265+4358T>C | |
| ENST00000703952.1:c.1265+4358T>C | ENSP00000515586.1:n.1265+4358T>C | |
| ENST00000703953.1:c.*954T>C | ENSP00000515587.1:n.*954T>C | |
| ENST00000703954.1:c.1571T>C | ENSP00000515588.1:p.Ile524Thr | |
| ENST00000703955.1:n.2241T>C | ||
| ENST00000703957.1:n.196T>C | ||
| ENST00000298649.8:c.1688T>C | ENSP00000298649.3:p.Ile563Thr | |
| ENST00000359426.7:c.1691T>C MANE Select | ENSP00000352398.6:p.Ile564Thr | |
| ENST00000436817.6:c.1703T>C | ENSP00000415949.2:p.Ile568Thr | |
| ENST00000493591.6:c.*1579T>C | ENSP00000494917.1:n.*1579T>C | |
| ENST00000643399.2:c.1703T>C MANE Plus Clinical | ENSP00000494664.1:p.Ile568Thr | |
| ENST00000298649.7:c.1688T>C | ENSP00000298649.3:p.Ile563Thr | |
| ENST00000359426.6:c.1691T>C | ENSP00000352398.6:p.Ile564Thr | |
| ENST00000360289.6:c.1655T>C | ENSP00000353433.2:p.Ile552Thr | |
| ENST00000448642.6:c.1703T>C | ENSP00000402103.3:p.Ile568Thr | |
| ENST00000494253.1:n.1917T>C | ||
| NM_000188.2:c.1691T>C | NP_000179.2:p.Ile564Thr | |
| NM_033496.2:c.1688T>C | NP_277031.1:p.Ile563Thr | |
| NM_033497.2:c.1703T>C | NP_277032.1:p.Ile568Thr | |
| NM_033498.2:c.1703T>C | NP_277033.1:p.Ile568Thr | |
| NM_033500.2:c.1655T>C , LRG_365t1:c.1655T>C | NP_277035.2:p.Ile552Thr | |
| XM_005269735.2:c.1820T>C | XP_005269792.1:p.Ile607Thr | |
| XM_005269736.1:c.1703T>C | XP_005269793.1:p.Ile568Thr | |
| XM_005269737.1:c.1607T>C | XP_005269794.1:p.Ile536Thr | |
| XM_011539732.1:c.1655T>C | XP_011538034.1:p.Ile552Thr | |
| XM_011539733.1:c.1649T>C | XP_011538035.1:p.Ile550Thr | |
| XM_011539734.1:c.1646T>C | XP_011538036.1:p.Ile549Thr | |
| NM_001322364.1:c.1703T>C | NP_001309293.1:p.Ile568Thr | |
| NM_001322365.1:c.1796T>C | NP_001309294.1:p.Ile599Thr | |
| NM_001322366.1:c.1607T>C | NP_001309295.1:p.Ile536Thr | |
| NM_001322367.1:c.1595T>C | NP_001309296.1:p.Ile532Thr | |
| NM_001358263.1:c.1703T>C MANE Plus Clinical | NP_001345192.1:p.Ile568Thr | |
| XM_024447969.1:c.1703T>C | XP_024303737.1:p.Ile568Thr | |
| NM_000188.3:c.1691T>C MANE Select | NP_000179.2:p.Ile564Thr | |
| NM_001322364.2:c.1703T>C | NP_001309293.1:p.Ile568Thr | |
| NM_001322365.2:c.1796T>C | NP_001309294.1:p.Ile599Thr | |
| NM_033496.3:c.1688T>C | NP_277031.1:p.Ile563Thr | |
| NM_033497.3:c.1703T>C | NP_277032.1:p.Ile568Thr | |
| NM_033498.3:c.1703T>C | NP_277033.1:p.Ile568Thr |