Linked Data
ClinVar Variation Id:
3058454
ClinVar RCV Id:
RCV003967251
dbSNP Id:
rs748635429
ExAC:
2:242690713 C / T
gnomAD v2:
2-242690713-C-T
gnomAD v3:
2-241751298-C-T
gnomAD v4:
2-241751298-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.241751298C>T , CM000664.2:g.241751298C>T | GRCh38 |
| NC_000002.11:g.242690713C>T , CM000664.1:g.242690713C>T | GRCh37 |
| NC_000002.10:g.242339386C>T | NCBI36 |
| NG_012012.1:g.21684C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321264.9:c.1050C>T MANE Select | ENSP00000315351.4:p.Asp350= | |
| ENST00000321264.8:c.1050C>T | ENSP00000315351.4:p.Asp350= | |
| ENST00000400769.6:c.854-4551C>T | ENSP00000383580.2:n.854-4551C>T | |
| ENST00000403782.5:c.648C>T | ENSP00000384723.1:p.Asp216= | |
| ENST00000432449.1:c.310C>T | ||
| ENST00000436747.5:c.*1366C>T | ENSP00000400212.1:n.*1366C>T | |
| ENST00000454048.1:c.153C>T | ENSP00000404596.1:p.Asp51= | |
| ENST00000467427.5:n.389+1004C>T | ||
| ENST00000470343.5:n.531C>T | ||
| ENST00000473126.1:n.249C>T | ||
| ENST00000486953.5:n.163+1004C>T | ||
| ENST00000496252.5:n.405C>T | ||
| NM_001287249.1:c.648C>T | NP_001274178.1:p.Asp216= | |
| NM_152783.4:c.1050C>T | NP_689996.4:p.Asp350= | |
| NR_109778.1:n.1063-4551C>T | ||
| XM_011511734.1:c.1128C>T | XP_011510036.1:p.Asp376= | |
| XM_011511735.1:c.1128C>T | XP_011510037.1:p.Asp376= | |
| XM_011511736.1:c.1050C>T | XP_011510038.1:p.Asp350= | |
| XM_011511737.1:c.1128C>T | XP_011510039.1:p.Asp376= | |
| XM_011511742.1:c.1265C>T | XP_011510044.1:p.Thr422Met | |
| XM_011511743.1:c.1265C>T | XP_011510045.1:p.Thr422Met | |
| XM_011511744.1:c.1265C>T | XP_011510046.1:p.Thr422Met | |
| XM_011511745.1:c.1128C>T | XP_011510047.1:p.Asp376= | |
| XM_011511748.1:c.1199C>T | XP_011510050.1:p.Thr400Met | |
| XM_011511749.1:c.1179+1004C>T | XP_011510051.1:n.1179+1004C>T | |
| XM_011511750.1:c.1128C>T | XP_011510052.1:p.Asp376= | |
| XM_011511751.1:c.1212+719C>T | XP_011510053.1:n.1212+719C>T | |
| XM_011511753.1:c.1075+1004C>T | XP_011510055.1:n.1075+1004C>T | |
| XM_011511754.1:c.567C>T | XP_011510056.1:p.Asp189= | |
| XM_011511755.1:c.558C>T | XP_011510057.1:p.Asp186= | |
| XM_011511756.1:c.853+6421C>T | XP_011510058.1:n.853+6421C>T | |
| XM_011511757.1:c.*66C>T | XP_011510059.1:n.*66C>T | |
| XR_241434.3:n.1389C>T | ||
| XR_923003.1:n.1911C>T | ||
| XR_923004.1:n.1682C>T | ||
| XR_923005.1:n.1425C>T | ||
| XR_923006.1:n.1425C>T | ||
| XR_923007.1:n.1392C>T | ||
| XR_923008.1:n.1288C>T | ||
| XR_923009.1:n.1288C>T | ||
| XR_923010.1:n.1722C>T | ||
| XR_923011.1:n.1493C>T | ||
| XR_923012.1:n.1427C>T | ||
| XR_923014.1:n.1014-4551C>T | ||
| NM_001352824.1:c.489C>T | NP_001339753.1:p.Asp163= | |
| XM_011511734.2:c.1128C>T | XP_011510036.1:p.Asp376= | |
| XM_011511735.2:c.1128C>T | XP_011510037.1:p.Asp376= | |
| XM_011511736.2:c.1050C>T | XP_011510038.1:p.Asp350= | |
| XM_011511737.3:c.1128C>T | XP_011510039.1:p.Asp376= | |
| XM_011511743.2:c.1265C>T | XP_011510045.1:p.Thr422Met | |
| XM_011511744.2:c.1265C>T | XP_011510046.1:p.Thr422Met | |
| XM_011511745.3:c.1128C>T | XP_011510047.1:p.Asp376= | |
| XM_011511749.3:c.1179+1004C>T | XP_011510051.1:n.1179+1004C>T | |
| XM_011511750.3:c.1128C>T | XP_011510052.1:p.Asp376= | |
| XM_011511751.2:c.1212+719C>T | XP_011510053.1:n.1212+719C>T | |
| XM_011511753.3:c.1075+1004C>T | XP_011510055.1:n.1075+1004C>T | |
| XM_011511756.2:c.853+6421C>T | XP_011510058.1:n.853+6421C>T | |
| XM_011511757.3:c.*66C>T | XP_011510059.1:n.*66C>T | |
| XM_017004828.2:c.1050C>T | XP_016860317.1:p.Asp350= | |
| XM_017004829.2:c.1265C>T | XP_016860318.1:p.Thr422Met | |
| XM_017004830.2:c.1128C>T | XP_016860319.1:p.Asp376= | |
| XM_024453102.1:c.900C>T | XP_024308870.1:p.Asp300= | |
| XR_001738918.2:n.1424C>T | ||
| XR_001738919.2:n.1358C>T | ||
| XR_002959334.1:n.1910C>T | ||
| XR_002959335.1:n.1554C>T | ||
| XR_241434.4:n.1388C>T | ||
| XR_923004.3:n.1681C>T | ||
| XR_923005.2:n.1424C>T | ||
| XR_923007.3:n.1391C>T | ||
| XR_923009.2:n.1287C>T | ||
| XR_923010.2:n.1721C>T | ||
| XR_923011.3:n.1492C>T | ||
| XR_923012.2:n.1426C>T | ||
| XR_923014.3:n.1013-4551C>T | ||
| NM_152783.5:c.1050C>T MANE Select | NP_689996.4:p.Asp350= | |
| NM_001287249.2:c.648C>T | NP_001274178.1:p.Asp216= | |
| NM_001352824.2:c.489C>T | NP_001339753.1:p.Asp163= | |
| NR_109778.2:n.1012-4551C>T |