Linked Data
ClinVar Variation Id:
528489
ClinVar RCV Id:
RCV000633708
dbSNP Id:
rs556545503
ExAC:
2:70439930 T / G
gnomAD v2:
2-70439930-T-G
gnomAD v3:
2-70212798-T-G
gnomAD v4:
2-70212798-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.70212798T>G , CM000664.2:g.70212798T>G | GRCh38 |
| NC_000002.11:g.70439930T>G , CM000664.1:g.70439930T>G | GRCh37 |
| NC_000002.10:g.70293434T>G | NCBI36 |
| NG_029967.1:g.40850A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000433529.7:c.1082A>C (TIA1) MANE Select | ENSP00000401371.2:p.Gln361Pro | |
| ENST00000282574.8:c.1079A>C (TIA1) | ENSP00000282574.4:p.Gln360Pro | |
| ENST00000415783.6:c.1049A>C (TIA1) | ENSP00000404023.2:p.Gln350Pro | |
| ENST00000433529.6:c.1082A>C (TIA1) | ENSP00000401371.2:p.Gln361Pro | |
| ENST00000445587.5:c.779A>C (TIA1) | ENSP00000399567.1:p.Gln260Pro | |
| ENST00000470096.1:n.212-30801A>C (C2orf42) | ||
| ENST00000486392.5:n.392A>C (TIA1) | ||
| ENST00000495774.1:n.484A>C (TIA1) | ||
| NM_022037.2:c.1049A>C (TIA1) | NP_071320.2:p.Gln350Pro | |
| NM_022173.2:c.1082A>C (TIA1) | NP_071505.2:p.Gln361Pro | |
| XM_005264527.1:c.1046A>C (TIA1) | XP_005264584.1:p.Gln349Pro | |
| XM_005264528.3:c.887A>C (TIA1) | XP_005264585.1:p.Gln296Pro | |
| XM_005264531.1:c.779A>C (TIA1) | XP_005264588.1:p.Gln260Pro | |
| XM_011533077.1:c.1079A>C (TIA1) | XP_011531379.1:p.Gln360Pro | |
| XM_011533078.1:c.782A>C (TIA1) | XP_011531380.1:p.Gln261Pro | |
| XM_011533079.1:c.782A>C (TIA1) | XP_011531381.1:p.Gln261Pro | |
| XM_011533080.1:c.782A>C (TIA1) | XP_011531382.1:p.Gln261Pro | |
| XM_011533081.1:c.782A>C (TIA1) | XP_011531383.1:p.Gln261Pro | |
| XM_011533082.1:c.782A>C (TIA1) | XP_011531384.1:p.Gln261Pro | |
| XM_011533083.1:c.662A>C (TIA1) | XP_011531385.1:p.Gln221Pro | |
| XR_244955.1:n.1439A>C (TIA1) | ||
| XR_939714.1:n.1418A>C (TIA1) | ||
| NM_001351508.1:c.1079A>C (TIA1) | NP_001338437.1:p.Gln360Pro | |
| NM_001351509.1:c.1055A>C (TIA1) | NP_001338438.1:p.Gln352Pro | |
| NM_001351510.1:c.1046A>C (TIA1) | NP_001338439.1:p.Gln349Pro | |
| NM_001351511.1:c.971A>C (TIA1) | NP_001338440.1:p.Gln324Pro | |
| NM_001351512.1:c.944A>C (TIA1) | NP_001338441.1:p.Gln315Pro | |
| NM_001351513.1:c.938A>C (TIA1) | NP_001338442.1:p.Gln313Pro | |
| NM_001351514.1:c.854A>C (TIA1) | NP_001338443.1:p.Gln285Pro | |
| NM_001351515.1:c.779A>C (TIA1) | NP_001338444.1:p.Gln260Pro | |
| NM_001351517.1:c.659A>C (TIA1) | NP_001338446.1:p.Gln220Pro | |
| NM_001351524.1:c.662A>C (TIA1) | NP_001338453.1:p.Gln221Pro | |
| NM_001351525.1:c.662A>C (TIA1) | NP_001338454.1:p.Gln221Pro | |
| NM_022037.3:c.1049A>C (TIA1) | NP_071320.2:p.Gln350Pro | |
| NM_022173.3:c.1082A>C (TIA1) | NP_071505.2:p.Gln361Pro | |
| NR_147216.1:n.1439A>C (TIA1) | ||
| NR_147217.1:n.1320A>C (TIA1) | ||
| NR_147218.1:n.1317A>C (TIA1) | ||
| NR_147219.1:n.1554A>C (TIA1) | ||
| NR_147220.1:n.1540A>C (TIA1) | ||
| NR_147221.1:n.1611A>C (TIA1) | ||
| NR_147222.1:n.1606A>C (TIA1) | ||
| NR_147223.1:n.1664A>C (TIA1) | ||
| NR_147224.1:n.1542A>C (TIA1) | ||
| NR_147225.1:n.1697A>C (TIA1) | ||
| NR_147226.1:n.1545A>C (TIA1) | ||
| NR_147227.1:n.1615A>C (TIA1) | ||
| NR_147228.1:n.1578A>C (TIA1) | ||
| NR_147229.1:n.1521A>C (TIA1) | ||
| NR_147230.1:n.1763A>C (TIA1) | ||
| NR_147231.1:n.1575A>C (TIA1) | ||
| NR_147232.1:n.1448A>C (TIA1) | ||
| XM_005264528.5:c.887A>C (TIA1) | XP_005264585.1:p.Gln296Pro | |
| XM_005264531.2:c.779A>C (TIA1) | XP_005264588.1:p.Gln260Pro | |
| XM_011533082.2:c.782A>C (TIA1) | XP_011531384.1:p.Gln261Pro | |
| XM_017004792.1:c.782A>C (TIA1) | XP_016860281.1:p.Gln261Pro | |
| XM_017004793.2:c.782A>C (TIA1) | XP_016860282.1:p.Gln261Pro | |
| XM_017004794.1:c.782A>C (TIA1) | XP_016860283.1:p.Gln261Pro | |
| XM_017004795.1:c.779A>C (TIA1) | XP_016860284.1:p.Gln260Pro | |
| XM_017004796.1:c.662A>C (TIA1) | XP_016860285.1:p.Gln221Pro | |
| XM_017004800.1:c.662A>C (TIA1) | XP_016860289.1:p.Gln221Pro | |
| XM_024453063.1:c.662A>C (TIA1) | XP_024308831.1:p.Gln221Pro | |
| XM_024453064.1:c.662A>C (TIA1) | XP_024308832.1:p.Gln221Pro | |
| XM_024453065.1:c.662A>C (TIA1) | XP_024308833.1:p.Gln221Pro | |
| XM_024453066.1:c.662A>C (TIA1) | XP_024308834.1:p.Gln221Pro | |
| XM_024453067.1:c.659A>C (TIA1) | XP_024308835.1:p.Gln220Pro | |
| XR_002959329.1:n.4666A>C (TIA1) | ||
| XR_002959330.1:n.2500A>C (TIA1) | ||
| XR_002959331.1:n.4663A>C (TIA1) | ||
| XR_002959332.1:n.2206A>C (TIA1) | ||
| NM_022173.4:c.1082A>C (TIA1) MANE Select | NP_071505.2:p.Gln361Pro | |
| NM_001351508.2:c.1079A>C (TIA1) | NP_001338437.1:p.Gln360Pro | |
| NM_001351509.2:c.1055A>C (TIA1) | NP_001338438.1:p.Gln352Pro | |
| NM_001351510.2:c.1046A>C (TIA1) | NP_001338439.1:p.Gln349Pro | |
| NM_001351514.2:c.854A>C (TIA1) | NP_001338443.1:p.Gln285Pro | |
| NM_001351515.2:c.779A>C (TIA1) | NP_001338444.1:p.Gln260Pro | |
| NM_001351517.2:c.659A>C (TIA1) | NP_001338446.1:p.Gln220Pro | |
| NM_001351524.2:c.662A>C (TIA1) | NP_001338453.1:p.Gln221Pro | |
| NM_001351525.2:c.662A>C (TIA1) | NP_001338454.1:p.Gln221Pro | |
| NM_022037.4:c.1049A>C (TIA1) | NP_071320.2:p.Gln350Pro | |
| NR_147219.2:n.1389A>C (TIA1) | ||
| NR_147220.2:n.1375A>C (TIA1) | ||
| NR_147221.2:n.1446A>C (TIA1) | ||
| NR_147222.2:n.1441A>C (TIA1) | ||
| NR_147223.2:n.1499A>C (TIA1) | ||
| NR_147224.2:n.1377A>C (TIA1) | ||
| NR_147225.2:n.1532A>C (TIA1) | ||
| NR_147226.2:n.1380A>C (TIA1) | ||
| NR_147227.2:n.1450A>C (TIA1) | ||
| NR_147228.2:n.1413A>C (TIA1) | ||
| NR_147229.2:n.1356A>C (TIA1) | ||
| NR_147230.2:n.1598A>C (TIA1) | ||
| NR_147231.2:n.1410A>C (TIA1) | ||
| NR_147232.2:n.1283A>C (TIA1) |