Linked Data
ClinVar Variation Id:
448688
dbSNP Id:
rs72902461
ExAC:
2:70439926 C / T
gnomAD v2:
2-70439926-C-T
gnomAD v3:
2-70212794-C-T
gnomAD v4:
2-70212794-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.70212794C>T , CM000664.2:g.70212794C>T | GRCh38 |
| NC_000002.11:g.70439926C>T , CM000664.1:g.70439926C>T | GRCh37 |
| NC_000002.10:g.70293430C>T | NCBI36 |
| NG_029967.1:g.40854G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433529.7:c.1086G>A (TIA1) MANE Select | ENSP00000401371.2:p.Pro362= | |
| ENST00000282574.8:c.1083G>A (TIA1) | ENSP00000282574.4:p.Pro361= | |
| ENST00000415783.6:c.1053G>A (TIA1) | ENSP00000404023.2:p.Pro351= | |
| ENST00000433529.6:c.1086G>A (TIA1) | ENSP00000401371.2:p.Pro362= | |
| ENST00000445587.5:c.783G>A (TIA1) | ENSP00000399567.1:p.Pro261= | |
| ENST00000470096.1:n.212-30797G>A (C2orf42) | ||
| ENST00000486392.5:n.396G>A (TIA1) | ||
| ENST00000495774.1:n.488G>A (TIA1) | ||
| NM_022037.2:c.1053G>A (TIA1) | NP_071320.2:p.Pro351= | |
| NM_022173.2:c.1086G>A (TIA1) | NP_071505.2:p.Pro362= | |
| XM_005264527.1:c.1050G>A (TIA1) | XP_005264584.1:p.Pro350= | |
| XM_005264528.3:c.891G>A (TIA1) | XP_005264585.1:p.Pro297= | |
| XM_005264531.1:c.783G>A (TIA1) | XP_005264588.1:p.Pro261= | |
| XM_011533077.1:c.1083G>A (TIA1) | XP_011531379.1:p.Pro361= | |
| XM_011533078.1:c.786G>A (TIA1) | XP_011531380.1:p.Pro262= | |
| XM_011533079.1:c.786G>A (TIA1) | XP_011531381.1:p.Pro262= | |
| XM_011533080.1:c.786G>A (TIA1) | XP_011531382.1:p.Pro262= | |
| XM_011533081.1:c.786G>A (TIA1) | XP_011531383.1:p.Pro262= | |
| XM_011533082.1:c.786G>A (TIA1) | XP_011531384.1:p.Pro262= | |
| XM_011533083.1:c.666G>A (TIA1) | XP_011531385.1:p.Pro222= | |
| XR_244955.1:n.1443G>A (TIA1) | ||
| XR_939714.1:n.1422G>A (TIA1) | ||
| NM_001351508.1:c.1083G>A (TIA1) | NP_001338437.1:p.Pro361= | |
| NM_001351509.1:c.1059G>A (TIA1) | NP_001338438.1:p.Pro353= | |
| NM_001351510.1:c.1050G>A (TIA1) | NP_001338439.1:p.Pro350= | |
| NM_001351511.1:c.975G>A (TIA1) | NP_001338440.1:p.Pro325= | |
| NM_001351512.1:c.948G>A (TIA1) | NP_001338441.1:p.Pro316= | |
| NM_001351513.1:c.942G>A (TIA1) | NP_001338442.1:p.Pro314= | |
| NM_001351514.1:c.858G>A (TIA1) | NP_001338443.1:p.Pro286= | |
| NM_001351515.1:c.783G>A (TIA1) | NP_001338444.1:p.Pro261= | |
| NM_001351517.1:c.663G>A (TIA1) | NP_001338446.1:p.Pro221= | |
| NM_001351524.1:c.666G>A (TIA1) | NP_001338453.1:p.Pro222= | |
| NM_001351525.1:c.666G>A (TIA1) | NP_001338454.1:p.Pro222= | |
| NM_022037.3:c.1053G>A (TIA1) | NP_071320.2:p.Pro351= | |
| NM_022173.3:c.1086G>A (TIA1) | NP_071505.2:p.Pro362= | |
| NR_147216.1:n.1443G>A (TIA1) | ||
| NR_147217.1:n.1324G>A (TIA1) | ||
| NR_147218.1:n.1321G>A (TIA1) | ||
| NR_147219.1:n.1558G>A (TIA1) | ||
| NR_147220.1:n.1544G>A (TIA1) | ||
| NR_147221.1:n.1615G>A (TIA1) | ||
| NR_147222.1:n.1610G>A (TIA1) | ||
| NR_147223.1:n.1668G>A (TIA1) | ||
| NR_147224.1:n.1546G>A (TIA1) | ||
| NR_147225.1:n.1701G>A (TIA1) | ||
| NR_147226.1:n.1549G>A (TIA1) | ||
| NR_147227.1:n.1619G>A (TIA1) | ||
| NR_147228.1:n.1582G>A (TIA1) | ||
| NR_147229.1:n.1525G>A (TIA1) | ||
| NR_147230.1:n.1767G>A (TIA1) | ||
| NR_147231.1:n.1579G>A (TIA1) | ||
| NR_147232.1:n.1452G>A (TIA1) | ||
| XM_005264528.5:c.891G>A (TIA1) | XP_005264585.1:p.Pro297= | |
| XM_005264531.2:c.783G>A (TIA1) | XP_005264588.1:p.Pro261= | |
| XM_011533082.2:c.786G>A (TIA1) | XP_011531384.1:p.Pro262= | |
| XM_017004792.1:c.786G>A (TIA1) | XP_016860281.1:p.Pro262= | |
| XM_017004793.2:c.786G>A (TIA1) | XP_016860282.1:p.Pro262= | |
| XM_017004794.1:c.786G>A (TIA1) | XP_016860283.1:p.Pro262= | |
| XM_017004795.1:c.783G>A (TIA1) | XP_016860284.1:p.Pro261= | |
| XM_017004796.1:c.666G>A (TIA1) | XP_016860285.1:p.Pro222= | |
| XM_017004800.1:c.666G>A (TIA1) | XP_016860289.1:p.Pro222= | |
| XM_024453063.1:c.666G>A (TIA1) | XP_024308831.1:p.Pro222= | |
| XM_024453064.1:c.666G>A (TIA1) | XP_024308832.1:p.Pro222= | |
| XM_024453065.1:c.666G>A (TIA1) | XP_024308833.1:p.Pro222= | |
| XM_024453066.1:c.666G>A (TIA1) | XP_024308834.1:p.Pro222= | |
| XM_024453067.1:c.663G>A (TIA1) | XP_024308835.1:p.Pro221= | |
| XR_002959329.1:n.4670G>A (TIA1) | ||
| XR_002959330.1:n.2504G>A (TIA1) | ||
| XR_002959331.1:n.4667G>A (TIA1) | ||
| XR_002959332.1:n.2210G>A (TIA1) | ||
| NM_022173.4:c.1086G>A (TIA1) MANE Select | NP_071505.2:p.Pro362= | |
| NM_001351508.2:c.1083G>A (TIA1) | NP_001338437.1:p.Pro361= | |
| NM_001351509.2:c.1059G>A (TIA1) | NP_001338438.1:p.Pro353= | |
| NM_001351510.2:c.1050G>A (TIA1) | NP_001338439.1:p.Pro350= | |
| NM_001351514.2:c.858G>A (TIA1) | NP_001338443.1:p.Pro286= | |
| NM_001351515.2:c.783G>A (TIA1) | NP_001338444.1:p.Pro261= | |
| NM_001351517.2:c.663G>A (TIA1) | NP_001338446.1:p.Pro221= | |
| NM_001351524.2:c.666G>A (TIA1) | NP_001338453.1:p.Pro222= | |
| NM_001351525.2:c.666G>A (TIA1) | NP_001338454.1:p.Pro222= | |
| NM_022037.4:c.1053G>A (TIA1) | NP_071320.2:p.Pro351= | |
| NR_147219.2:n.1393G>A (TIA1) | ||
| NR_147220.2:n.1379G>A (TIA1) | ||
| NR_147221.2:n.1450G>A (TIA1) | ||
| NR_147222.2:n.1445G>A (TIA1) | ||
| NR_147223.2:n.1503G>A (TIA1) | ||
| NR_147224.2:n.1381G>A (TIA1) | ||
| NR_147225.2:n.1536G>A (TIA1) | ||
| NR_147226.2:n.1384G>A (TIA1) | ||
| NR_147227.2:n.1454G>A (TIA1) | ||
| NR_147228.2:n.1417G>A (TIA1) | ||
| NR_147229.2:n.1360G>A (TIA1) | ||
| NR_147230.2:n.1602G>A (TIA1) | ||
| NR_147231.2:n.1414G>A (TIA1) | ||
| NR_147232.2:n.1287G>A (TIA1) |