Linked Data
ClinVar Variation Id:
355044
dbSNP Id:
rs181012139
ExAC:
6:110112621 G / T
gnomAD v2:
6-110112621-G-T
gnomAD v3:
6-109791418-G-T
gnomAD v4:
6-109791418-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.109791418G>T , CM000668.2:g.109791418G>T | GRCh38 |
| NC_000006.11:g.110112621G>T , CM000668.1:g.110112621G>T | GRCh37 |
| NC_000006.10:g.110219314G>T | NCBI36 |
| NG_007977.1:g.105198G>T , LRG_241:g.105198G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230124.8:c.2223G>T MANE Select | ENSP00000230124.4:p.Thr741= | |
| ENST00000415980.2:c.729G>T | ENSP00000405660.2:p.Thr243= | |
| ENST00000419951.2:n.571G>T | ||
| ENST00000674532.1:n.5419G>T | ||
| ENST00000674557.1:c.*1516G>T | ENSP00000501608.1:n.*1516G>T | |
| ENST00000674569.1:c.*1342G>T | ENSP00000502769.1:n.*1342G>T | |
| ENST00000674571.1:c.*1342G>T | ENSP00000501633.1:n.*1342G>T | |
| ENST00000674575.1:c.*1342G>T | ENSP00000502276.1:n.*1342G>T | |
| ENST00000674641.1:c.1878G>T | ENSP00000501609.1:p.Thr626= | |
| ENST00000674644.1:c.1293G>T | ENSP00000502201.1:p.Thr431= | |
| ENST00000674649.1:c.*1916G>T | ENSP00000501669.1:n.*1916G>T | |
| ENST00000674657.1:c.*1655G>T | ENSP00000502314.1:n.*1655G>T | |
| ENST00000674744.1:c.2217G>T | ENSP00000501661.1:p.Thr739= | |
| ENST00000674778.1:c.*1441G>T | ENSP00000502742.1:n.*1441G>T | |
| ENST00000674783.1:c.*1138G>T | ENSP00000502755.1:n.*1138G>T | |
| ENST00000674884.1:c.2241G>T | ENSP00000502668.1:p.Thr747= | |
| ENST00000674930.1:c.*1348G>T | ENSP00000502657.1:n.*1348G>T | |
| ENST00000674933.1:c.1992G>T | ENSP00000502376.1:p.Thr664= | |
| ENST00000674956.1:c.*1437G>T | ENSP00000501904.1:n.*1437G>T | |
| ENST00000675004.1:c.*2175G>T | ENSP00000501868.1:n.*2175G>T | |
| ENST00000675009.1:c.*1607G>T | ENSP00000502098.1:n.*1607G>T | |
| ENST00000675096.1:c.2016G>T | ENSP00000502116.1:p.Thr672= | |
| ENST00000675122.1:c.*330G>T | ENSP00000501810.1:n.*330G>T | |
| ENST00000675153.1:c.*940G>T | ENSP00000501682.1:n.*940G>T | |
| ENST00000675254.1:n.2672G>T | ||
| ENST00000675272.1:n.6521G>T | ||
| ENST00000675284.1:c.2223G>T | ENSP00000502758.1:p.Thr741= | |
| ENST00000675301.1:n.880G>T | ||
| ENST00000675311.1:c.*1425G>T | ENSP00000501961.1:n.*1425G>T | |
| ENST00000675426.1:c.*1291G>T | ENSP00000501819.1:n.*1291G>T | |
| ENST00000675523.1:c.1992G>T | ENSP00000502384.1:p.Thr664= | |
| ENST00000675552.1:c.*4486G>T | ENSP00000502197.1:n.*4486G>T | |
| ENST00000675714.1:c.2223G>T | ENSP00000502561.1:p.Thr741= | |
| ENST00000675726.1:c.2223G>T | ENSP00000502452.1:p.Thr741= | |
| ENST00000675772.1:c.2223G>T | ENSP00000501678.1:p.Thr741= | |
| ENST00000675831.1:c.1830G>T | ENSP00000502382.1:p.Thr610= | |
| ENST00000675849.1:n.1845G>T | ||
| ENST00000675879.1:c.1068G>T | ||
| ENST00000675887.1:c.*1826G>T | ENSP00000502123.1:n.*1826G>T | |
| ENST00000675954.1:n.3556G>T | ||
| ENST00000675991.1:c.*3040G>T | ENSP00000502162.1:n.*3040G>T | |
| ENST00000675994.1:c.*1362G>T | ENSP00000502419.1:n.*1362G>T | |
| ENST00000676021.1:c.*801G>T | ENSP00000502746.1:n.*801G>T | |
| ENST00000676037.1:c.*150G>T | ENSP00000502181.1:n.*150G>T | |
| ENST00000676136.1:n.4870G>T | ||
| ENST00000676246.1:n.113G>T | ||
| ENST00000676442.1:c.2094G>T | ENSP00000502595.1:p.Thr698= | |
| ENST00000230124.7:c.2223G>T | ENSP00000230124.3:p.Thr741= | |
| ENST00000419951.1:c.144G>T | ENSP00000396566.1:p.Thr48= | |
| NM_014845.5:c.2223G>T , LRG_241t1:c.2223G>T | NP_055660.1:p.Thr741= | |
| XM_011536281.1:c.2160G>T | XP_011534583.1:p.Thr720= | |
| XM_011536281.3:c.2160G>T | XP_011534583.1:p.Thr720= | |
| XM_017011592.1:c.1674G>T | XP_016867081.1:p.Thr558= | |
| XM_017011593.2:c.1293G>T | XP_016867082.1:p.Thr431= | |
| NM_014845.6:c.2223G>T MANE Select | NP_055660.1:p.Thr741= |