Linked Data
ClinVar Variation Id:
246243
ClinVar RCV Id:
RCV000236175
RCV000528862
RCV000853578
RCV001820787
RCV001848022
RCV002338772
RCV002487099
dbSNP Id:
rs371831198
ExAC:
2:241662027 G / A
gnomAD v2:
2-241662027-G-A
gnomAD v3:
2-240722610-G-A
gnomAD v4:
2-240722610-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240722610G>A , CM000664.2:g.240722610G>A | GRCh38 |
| NC_000002.11:g.241662027G>A , CM000664.1:g.241662027G>A | GRCh37 |
| NC_000002.10:g.241310700G>A | NCBI36 |
| NG_029724.1:g.102598C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320389.12:c.4232C>T | ENSP00000322791.8:p.Thr1411Ile | |
| ENST00000404283.9:c.4535C>T | ENSP00000384231.5:p.Thr1512Ile | |
| ENST00000431776.6:c.1331C>T | ENSP00000414613.2:p.Thr444Ile | |
| ENST00000465813.2:n.71C>T | ||
| ENST00000492812.6:n.3094C>T | ||
| ENST00000498729.9:c.4511C>T MANE Select | ENSP00000438388.1:p.Thr1504Ile | |
| ENST00000647731.1:c.4235C>T | ENSP00000498099.1:p.Thr1412Ile | |
| ENST00000647885.1:c.4322C>T | ENSP00000497739.1:p.Thr1441Ile | |
| ENST00000648047.1:c.3470C>T | ENSP00000497935.1:p.Thr1157Ile | |
| ENST00000648129.1:c.4484C>T | ENSP00000497293.1:p.Thr1495Ile | |
| ENST00000648364.1:c.4235C>T | ENSP00000498196.1:p.Thr1412Ile | |
| ENST00000648680.1:c.4262C>T | ENSP00000497586.1:p.Thr1421Ile | |
| ENST00000649096.1:c.4208C>T | ENSP00000497030.1:p.Thr1403Ile | |
| ENST00000649190.1:n.3505C>T | ||
| ENST00000649306.1:c.4310C>T | ENSP00000497678.1:p.Thr1437Ile | |
| ENST00000650053.1:c.4208C>T | ENSP00000497824.1:p.Thr1403Ile | |
| ENST00000650130.1:c.4484C>T | ENSP00000498082.1:p.Thr1495Ile | |
| ENST00000650430.1:n.3583C>T | ||
| ENST00000320389.11:c.4208C>T | ENSP00000322791.7:p.Thr1403Ile | |
| ENST00000431776.5:c.1006C>T | ||
| ENST00000460788.5:n.1068C>T | ||
| ENST00000465813.1:n.49C>T | ||
| ENST00000492812.5:n.983C>T | ||
| ENST00000498729.6:c.4511C>T | ENSP00000438388.1:p.Thr1504Ile | |
| NM_001244008.1:c.4511C>T | NP_001230937.1:p.Thr1504Ile | |
| NM_004321.6:c.4208C>T | NP_004312.2:p.Thr1403Ile | |
| XM_005247022.1:c.4538C>T | XP_005247079.1:p.Thr1513Ile | |
| XM_005247023.1:c.4535C>T | XP_005247080.1:p.Thr1512Ile | |
| XM_005247024.1:c.4511C>T | XP_005247081.1:p.Thr1504Ile | |
| XM_005247026.1:c.4235C>T | XP_005247083.1:p.Thr1412Ile | |
| XM_005247027.1:c.4232C>T | XP_005247084.1:p.Thr1411Ile | |
| XM_005247028.1:c.4208C>T | XP_005247085.1:p.Thr1403Ile | |
| XM_006712605.1:c.4484C>T | XP_006712668.1:p.Thr1495Ile | |
| XM_011511364.1:c.4538C>T | XP_011509666.1:p.Thr1513Ile | |
| XM_011511365.1:c.4262C>T | XP_011509667.1:p.Thr1421Ile | |
| XM_011511366.1:c.3533C>T | XP_011509668.1:p.Thr1178Ile | |
| XM_011511367.1:c.3533C>T | XP_011509669.1:p.Thr1178Ile | |
| NM_001320705.1:c.4235C>T | NP_001307634.1:p.Thr1412Ile | |
| NM_001330289.1:c.4262C>T | NP_001317218.1:p.Thr1421Ile | |
| NM_001330290.1:c.4310C>T | NP_001317219.1:p.Thr1437Ile | |
| NM_004321.7:c.4208C>T | NP_004312.2:p.Thr1403Ile | |
| NM_001320705.2:c.4235C>T | NP_001307634.1:p.Thr1412Ile | |
| NM_001330289.2:c.4262C>T | NP_001317218.1:p.Thr1421Ile | |
| NM_001330290.2:c.4310C>T | NP_001317219.1:p.Thr1437Ile | |
| NM_001244008.2:c.4511C>T MANE Select | NP_001230937.1:p.Thr1504Ile | |
| NM_001379631.1:c.4586C>T | NP_001366560.1:p.Thr1529Ile | |
| NM_001379632.1:c.4487C>T | NP_001366561.1:p.Thr1496Ile | |
| NM_001379633.1:c.4484C>T | NP_001366562.1:p.Thr1495Ile | |
| NM_001379634.1:c.4337C>T | NP_001366563.1:p.Thr1446Ile | |
| NM_001379635.1:c.4334C>T | NP_001366564.1:p.Thr1445Ile | |
| NM_001379636.1:c.4322C>T | NP_001366565.1:p.Thr1441Ile | |
| NM_001379637.1:c.4283C>T | NP_001366566.1:p.Thr1428Ile | |
| NM_001379638.1:c.4259C>T | NP_001366567.1:p.Thr1420Ile | |
| NM_001379639.1:c.4232C>T | NP_001366568.1:p.Thr1411Ile | |
| NM_001379640.1:c.4205C>T | NP_001366569.1:p.Thr1402Ile | |
| NM_001379641.1:c.4208C>T | NP_001366570.1:p.Thr1403Ile | |
| NM_001379642.1:c.4511C>T | NP_001366571.1:p.Thr1504Ile | |
| NM_001379645.1:c.4484C>T | NP_001366574.1:p.Thr1495Ile | |
| NM_001379646.1:c.4334C>T | NP_001366575.1:p.Thr1445Ile | |
| NM_001379648.1:c.4310C>T | NP_001366577.1:p.Thr1437Ile | |
| NM_001379649.1:c.4235C>T | NP_001366578.1:p.Thr1412Ile | |
| NM_001379650.1:c.4208C>T | NP_001366579.1:p.Thr1403Ile | |
| NM_001379651.1:c.4208C>T | NP_001366580.1:p.Thr1403Ile | |
| NM_001379653.1:c.4208C>T | NP_001366582.1:p.Thr1403Ile | |
| NM_004321.8:c.4208C>T | NP_004312.2:p.Thr1403Ile |