Linked Data
ClinVar Variation Id:
1315450
dbSNP Id:
rs1372580366
gnomAD v2:
X-41390279-A-G
gnomAD v4:
X-41531026-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.41531026A>G , CM000685.2:g.41531026A>G | GRCh38 |
| NC_000023.10:g.41390279A>G , CM000685.1:g.41390279A>G | GRCh37 |
| NC_000023.9:g.41275223A>G | NCBI36 |
| NG_016754.1:g.397009T>C | |
| NG_016754.2:g.397009T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378154.3:c.2450T>C | ENSP00000367396.2:p.Ile817Thr | |
| ENST00000378158.6:c.2447T>C | ENSP00000367400.2:p.Ile816Thr | |
| ENST00000378163.7:c.2501T>C MANE Select | ENSP00000367405.1:p.Ile834Thr | |
| ENST00000378166.9:c.2399T>C | ENSP00000367408.5:p.Ile800Thr | |
| ENST00000378168.8:c.2504T>C | ENSP00000367410.4:p.Ile835Thr | |
| ENST00000378179.9:c.1121T>C | ENSP00000367421.4:p.Ile374Thr | |
| ENST00000421587.8:c.2432T>C | ENSP00000400526.4:p.Ile811Thr | |
| ENST00000442742.7:c.2363T>C | ENSP00000398007.3:p.Ile788Thr | |
| ENST00000642499.1:n.1280T>C | ||
| ENST00000643733.1:c.273T>C | ||
| ENST00000644219.1:c.2483T>C | ENSP00000495357.1:p.Ile828Thr | |
| ENST00000644347.1:c.2414T>C | ENSP00000494183.1:p.Ile805Thr | |
| ENST00000645566.1:c.2486T>C | ENSP00000494788.1:p.Ile829Thr | |
| ENST00000645937.2:n.2732T>C | ||
| ENST00000645986.2:c.2468T>C | ENSP00000494409.2:p.Ile823Thr | |
| ENST00000646087.2:c.1823T>C | ENSP00000495510.2:p.Ile608Thr | |
| ENST00000646120.2:c.2417T>C | ENSP00000495291.2:p.Ile806Thr | |
| ENST00000675354.1:c.2435T>C | ENSP00000502315.1:p.Ile812Thr | |
| ENST00000378158.5:c.2450T>C | ENSP00000367400.1:p.Ile817Thr | |
| ENST00000378163.5:c.2501T>C | ENSP00000367405.1:p.Ile834Thr | |
| ENST00000378166.8:c.2486T>C | ENSP00000367408.4:p.Ile829Thr | |
| ENST00000378168.6:c.866T>C | ENSP00000367410.2:p.Ile289Thr | |
| ENST00000378179.7:c.1277T>C | ENSP00000367421.3:p.Ile426Thr | |
| ENST00000421587.6:c.2414T>C | ENSP00000400526.2:p.Ile805Thr | |
| ENST00000442742.6:c.2417T>C | ENSP00000398007.2:p.Ile806Thr | |
| NM_001126054.2:c.2417T>C | NP_001119526.1:p.Ile806Thr | |
| NM_001126055.2:c.2414T>C | NP_001119527.1:p.Ile805Thr | |
| NM_003688.3:c.2486T>C | NP_003679.2:p.Ile829Thr | |
| XM_005272686.3:c.2483T>C | XP_005272743.1:p.Ile828Thr | |
| XM_006724566.2:c.2378T>C | XP_006724629.1:p.Ile793Thr | |
| XM_011543993.1:c.2501T>C | XP_011542295.1:p.Ile834Thr | |
| XM_011543994.1:c.2465T>C | XP_011542296.1:p.Ile822Thr | |
| XM_011543995.1:c.2432T>C | XP_011542297.1:p.Ile811Thr | |
| XM_011543996.1:c.2396T>C | XP_011542298.1:p.Ile799Thr | |
| XM_011543997.1:c.1928T>C | XP_011542299.1:p.Ile643Thr | |
| XM_005272686.4:c.2483T>C | XP_005272743.1:p.Ile828Thr | |
| XM_006724566.3:c.2378T>C | XP_006724629.1:p.Ile793Thr | |
| XM_011543993.2:c.2501T>C | XP_011542295.1:p.Ile834Thr | |
| XM_011543994.2:c.2465T>C | XP_011542296.1:p.Ile822Thr | |
| XM_011543995.2:c.2432T>C | XP_011542297.1:p.Ile811Thr | |
| XM_011543996.2:c.2396T>C | XP_011542298.1:p.Ile799Thr | |
| XM_011543997.3:c.1928T>C | XP_011542299.1:p.Ile643Thr | |
| XM_024452473.1:c.1823T>C | XP_024308241.1:p.Ile608Thr | |
| NM_001367721.1:c.2501T>C MANE Select | NP_001354650.1:p.Ile834Thr |