Linked Data
ClinVar Variation Id:
464244
dbSNP Id:
rs373900978
ExAC:
2:241664773 C / T
gnomAD v2:
2-241664773-C-T
gnomAD v4:
2-240725356-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240725356C>T , CM000664.2:g.240725356C>T | GRCh38 |
| NC_000002.11:g.241664773C>T , CM000664.1:g.241664773C>T | GRCh37 |
| NC_000002.10:g.241313446C>T | NCBI36 |
| NG_029724.1:g.99852G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320389.12:c.3892G>A | ENSP00000322791.8:p.Val1298Ile | |
| ENST00000404283.9:c.4195G>A | ENSP00000384231.5:p.Val1399Ile | |
| ENST00000431776.6:c.991G>A | ENSP00000414613.2:p.Val331Ile | |
| ENST00000492812.6:n.2754G>A | ||
| ENST00000498729.9:c.4171G>A MANE Select | ENSP00000438388.1:p.Val1391Ile | |
| ENST00000647731.1:c.3895G>A | ENSP00000498099.1:p.Val1299Ile | |
| ENST00000647885.1:c.3982G>A | ENSP00000497739.1:p.Val1328Ile | |
| ENST00000648047.1:c.3130G>A | ENSP00000497935.1:p.Val1044Ile | |
| ENST00000648129.1:c.4144G>A | ENSP00000497293.1:p.Val1382Ile | |
| ENST00000648364.1:c.3895G>A | ENSP00000498196.1:p.Val1299Ile | |
| ENST00000648680.1:c.3922G>A | ENSP00000497586.1:p.Val1308Ile | |
| ENST00000649096.1:c.3868G>A | ENSP00000497030.1:p.Val1290Ile | |
| ENST00000649190.1:n.3165G>A | ||
| ENST00000649306.1:c.3970G>A | ENSP00000497678.1:p.Val1324Ile | |
| ENST00000650053.1:c.3868G>A | ENSP00000497824.1:p.Val1290Ile | |
| ENST00000650130.1:c.4144G>A | ENSP00000498082.1:p.Val1382Ile | |
| ENST00000650430.1:n.3243G>A | ||
| ENST00000674530.1:n.234G>A | ||
| ENST00000320389.11:c.3868G>A | ENSP00000322791.7:p.Val1290Ile | |
| ENST00000404283.7:c.4195G>A | ENSP00000384231.3:p.Val1399Ile | |
| ENST00000431776.5:c.666G>A | ||
| ENST00000492812.5:n.643G>A | ||
| ENST00000498729.6:c.4171G>A | ENSP00000438388.1:p.Val1391Ile | |
| NM_001244008.1:c.4171G>A | NP_001230937.1:p.Val1391Ile | |
| NM_004321.6:c.3868G>A | NP_004312.2:p.Val1290Ile | |
| XM_005247022.1:c.4198G>A | XP_005247079.1:p.Val1400Ile | |
| XM_005247023.1:c.4195G>A | XP_005247080.1:p.Val1399Ile | |
| XM_005247024.1:c.4171G>A | XP_005247081.1:p.Val1391Ile | |
| XM_005247026.1:c.3895G>A | XP_005247083.1:p.Val1299Ile | |
| XM_005247027.1:c.3892G>A | XP_005247084.1:p.Val1298Ile | |
| XM_005247028.1:c.3868G>A | XP_005247085.1:p.Val1290Ile | |
| XM_006712605.1:c.4144G>A | XP_006712668.1:p.Val1382Ile | |
| XM_011511364.1:c.4198G>A | XP_011509666.1:p.Val1400Ile | |
| XM_011511365.1:c.3922G>A | XP_011509667.1:p.Val1308Ile | |
| XM_011511366.1:c.3193G>A | XP_011509668.1:p.Val1065Ile | |
| XM_011511367.1:c.3193G>A | XP_011509669.1:p.Val1065Ile | |
| NM_001320705.1:c.3895G>A | NP_001307634.1:p.Val1299Ile | |
| NM_001330289.1:c.3922G>A | NP_001317218.1:p.Val1308Ile | |
| NM_001330290.1:c.3970G>A | NP_001317219.1:p.Val1324Ile | |
| NM_004321.7:c.3868G>A | NP_004312.2:p.Val1290Ile | |
| NM_001320705.2:c.3895G>A | NP_001307634.1:p.Val1299Ile | |
| NM_001330289.2:c.3922G>A | NP_001317218.1:p.Val1308Ile | |
| NM_001330290.2:c.3970G>A | NP_001317219.1:p.Val1324Ile | |
| NM_001244008.2:c.4171G>A MANE Select | NP_001230937.1:p.Val1391Ile | |
| NM_001379631.1:c.4246G>A | NP_001366560.1:p.Val1416Ile | |
| NM_001379632.1:c.4147G>A | NP_001366561.1:p.Val1383Ile | |
| NM_001379633.1:c.4144G>A | NP_001366562.1:p.Val1382Ile | |
| NM_001379634.1:c.3997G>A | NP_001366563.1:p.Val1333Ile | |
| NM_001379635.1:c.3994G>A | NP_001366564.1:p.Val1332Ile | |
| NM_001379636.1:c.3982G>A | NP_001366565.1:p.Val1328Ile | |
| NM_001379637.1:c.3943G>A | NP_001366566.1:p.Val1315Ile | |
| NM_001379638.1:c.3919G>A | NP_001366567.1:p.Val1307Ile | |
| NM_001379639.1:c.3892G>A | NP_001366568.1:p.Val1298Ile | |
| NM_001379640.1:c.3865G>A | NP_001366569.1:p.Val1289Ile | |
| NM_001379641.1:c.3868G>A | NP_001366570.1:p.Val1290Ile | |
| NM_001379642.1:c.4171G>A | NP_001366571.1:p.Val1391Ile | |
| NM_001379645.1:c.4144G>A | NP_001366574.1:p.Val1382Ile | |
| NM_001379646.1:c.3994G>A | NP_001366575.1:p.Val1332Ile | |
| NM_001379648.1:c.3970G>A | NP_001366577.1:p.Val1324Ile | |
| NM_001379649.1:c.3895G>A | NP_001366578.1:p.Val1299Ile | |
| NM_001379650.1:c.3868G>A | NP_001366579.1:p.Val1290Ile | |
| NM_001379651.1:c.3868G>A | NP_001366580.1:p.Val1290Ile | |
| NM_001379653.1:c.3868G>A | NP_001366582.1:p.Val1290Ile | |
| NM_004321.8:c.3868G>A | NP_004312.2:p.Val1290Ile |