Linked Data
ClinVar Variation Id:
261567
dbSNP Id:
rs116621885
ExAC:
2:70439942 T / C
gnomAD v2:
2-70439942-T-C
gnomAD v3:
2-70212810-T-C
gnomAD v4:
2-70212810-T-C
COSMIC:
COSM3695577
PubMed:
PMID:26627873
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.70212810T>C , CM000664.2:g.70212810T>C | GRCh38 |
| NC_000002.11:g.70439942T>C , CM000664.1:g.70439942T>C | GRCh37 |
| NC_000002.10:g.70293446T>C | NCBI36 |
| NG_029967.1:g.40838A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433529.7:c.1070A>G (TIA1) MANE Select | ENSP00000401371.2:p.Asn357Ser | |
| ENST00000282574.8:c.1067A>G (TIA1) | ENSP00000282574.4:p.Asn356Ser | |
| ENST00000415783.6:c.1037A>G (TIA1) | ENSP00000404023.2:p.Asn346Ser | |
| ENST00000433529.6:c.1070A>G (TIA1) | ENSP00000401371.2:p.Asn357Ser | |
| ENST00000445587.5:c.767A>G (TIA1) | ENSP00000399567.1:p.Asn256Ser | |
| ENST00000470096.1:n.212-30813A>G (C2orf42) | ||
| ENST00000486392.5:n.380A>G (TIA1) | ||
| ENST00000495774.1:n.472A>G (TIA1) | ||
| NM_022037.2:c.1037A>G (TIA1) | NP_071320.2:p.Asn346Ser | |
| NM_022173.2:c.1070A>G (TIA1) | NP_071505.2:p.Asn357Ser | |
| XM_005264527.1:c.1034A>G (TIA1) | XP_005264584.1:p.Asn345Ser | |
| XM_005264528.3:c.875A>G (TIA1) | XP_005264585.1:p.Asn292Ser | |
| XM_005264531.1:c.767A>G (TIA1) | XP_005264588.1:p.Asn256Ser | |
| XM_011533077.1:c.1067A>G (TIA1) | XP_011531379.1:p.Asn356Ser | |
| XM_011533078.1:c.770A>G (TIA1) | XP_011531380.1:p.Asn257Ser | |
| XM_011533079.1:c.770A>G (TIA1) | XP_011531381.1:p.Asn257Ser | |
| XM_011533080.1:c.770A>G (TIA1) | XP_011531382.1:p.Asn257Ser | |
| XM_011533081.1:c.770A>G (TIA1) | XP_011531383.1:p.Asn257Ser | |
| XM_011533082.1:c.770A>G (TIA1) | XP_011531384.1:p.Asn257Ser | |
| XM_011533083.1:c.650A>G (TIA1) | XP_011531385.1:p.Asn217Ser | |
| XR_244955.1:n.1427A>G (TIA1) | ||
| XR_939714.1:n.1406A>G (TIA1) | ||
| NM_001351508.1:c.1067A>G (TIA1) | NP_001338437.1:p.Asn356Ser | |
| NM_001351509.1:c.1043A>G (TIA1) | NP_001338438.1:p.Asn348Ser | |
| NM_001351510.1:c.1034A>G (TIA1) | NP_001338439.1:p.Asn345Ser | |
| NM_001351511.1:c.959A>G (TIA1) | NP_001338440.1:p.Asn320Ser | |
| NM_001351512.1:c.932A>G (TIA1) | NP_001338441.1:p.Asn311Ser | |
| NM_001351513.1:c.926A>G (TIA1) | NP_001338442.1:p.Asn309Ser | |
| NM_001351514.1:c.842A>G (TIA1) | NP_001338443.1:p.Asn281Ser | |
| NM_001351515.1:c.767A>G (TIA1) | NP_001338444.1:p.Asn256Ser | |
| NM_001351517.1:c.647A>G (TIA1) | NP_001338446.1:p.Asn216Ser | |
| NM_001351524.1:c.650A>G (TIA1) | NP_001338453.1:p.Asn217Ser | |
| NM_001351525.1:c.650A>G (TIA1) | NP_001338454.1:p.Asn217Ser | |
| NM_022037.3:c.1037A>G (TIA1) | NP_071320.2:p.Asn346Ser | |
| NM_022173.3:c.1070A>G (TIA1) | NP_071505.2:p.Asn357Ser | |
| NR_147216.1:n.1427A>G (TIA1) | ||
| NR_147217.1:n.1308A>G (TIA1) | ||
| NR_147218.1:n.1305A>G (TIA1) | ||
| NR_147219.1:n.1542A>G (TIA1) | ||
| NR_147220.1:n.1528A>G (TIA1) | ||
| NR_147221.1:n.1599A>G (TIA1) | ||
| NR_147222.1:n.1594A>G (TIA1) | ||
| NR_147223.1:n.1652A>G (TIA1) | ||
| NR_147224.1:n.1530A>G (TIA1) | ||
| NR_147225.1:n.1685A>G (TIA1) | ||
| NR_147226.1:n.1533A>G (TIA1) | ||
| NR_147227.1:n.1603A>G (TIA1) | ||
| NR_147228.1:n.1566A>G (TIA1) | ||
| NR_147229.1:n.1509A>G (TIA1) | ||
| NR_147230.1:n.1751A>G (TIA1) | ||
| NR_147231.1:n.1563A>G (TIA1) | ||
| NR_147232.1:n.1436A>G (TIA1) | ||
| XM_005264528.5:c.875A>G (TIA1) | XP_005264585.1:p.Asn292Ser | |
| XM_005264531.2:c.767A>G (TIA1) | XP_005264588.1:p.Asn256Ser | |
| XM_011533082.2:c.770A>G (TIA1) | XP_011531384.1:p.Asn257Ser | |
| XM_017004792.1:c.770A>G (TIA1) | XP_016860281.1:p.Asn257Ser | |
| XM_017004793.2:c.770A>G (TIA1) | XP_016860282.1:p.Asn257Ser | |
| XM_017004794.1:c.770A>G (TIA1) | XP_016860283.1:p.Asn257Ser | |
| XM_017004795.1:c.767A>G (TIA1) | XP_016860284.1:p.Asn256Ser | |
| XM_017004796.1:c.650A>G (TIA1) | XP_016860285.1:p.Asn217Ser | |
| XM_017004800.1:c.650A>G (TIA1) | XP_016860289.1:p.Asn217Ser | |
| XM_024453063.1:c.650A>G (TIA1) | XP_024308831.1:p.Asn217Ser | |
| XM_024453064.1:c.650A>G (TIA1) | XP_024308832.1:p.Asn217Ser | |
| XM_024453065.1:c.650A>G (TIA1) | XP_024308833.1:p.Asn217Ser | |
| XM_024453066.1:c.650A>G (TIA1) | XP_024308834.1:p.Asn217Ser | |
| XM_024453067.1:c.647A>G (TIA1) | XP_024308835.1:p.Asn216Ser | |
| XR_002959329.1:n.4654A>G (TIA1) | ||
| XR_002959330.1:n.2488A>G (TIA1) | ||
| XR_002959331.1:n.4651A>G (TIA1) | ||
| XR_002959332.1:n.2194A>G (TIA1) | ||
| NM_022173.4:c.1070A>G (TIA1) MANE Select | NP_071505.2:p.Asn357Ser | |
| NM_001351508.2:c.1067A>G (TIA1) | NP_001338437.1:p.Asn356Ser | |
| NM_001351509.2:c.1043A>G (TIA1) | NP_001338438.1:p.Asn348Ser | |
| NM_001351510.2:c.1034A>G (TIA1) | NP_001338439.1:p.Asn345Ser | |
| NM_001351514.2:c.842A>G (TIA1) | NP_001338443.1:p.Asn281Ser | |
| NM_001351515.2:c.767A>G (TIA1) | NP_001338444.1:p.Asn256Ser | |
| NM_001351517.2:c.647A>G (TIA1) | NP_001338446.1:p.Asn216Ser | |
| NM_001351524.2:c.650A>G (TIA1) | NP_001338453.1:p.Asn217Ser | |
| NM_001351525.2:c.650A>G (TIA1) | NP_001338454.1:p.Asn217Ser | |
| NM_022037.4:c.1037A>G (TIA1) | NP_071320.2:p.Asn346Ser | |
| NR_147219.2:n.1377A>G (TIA1) | ||
| NR_147220.2:n.1363A>G (TIA1) | ||
| NR_147221.2:n.1434A>G (TIA1) | ||
| NR_147222.2:n.1429A>G (TIA1) | ||
| NR_147223.2:n.1487A>G (TIA1) | ||
| NR_147224.2:n.1365A>G (TIA1) | ||
| NR_147225.2:n.1520A>G (TIA1) | ||
| NR_147226.2:n.1368A>G (TIA1) | ||
| NR_147227.2:n.1438A>G (TIA1) | ||
| NR_147228.2:n.1401A>G (TIA1) | ||
| NR_147229.2:n.1344A>G (TIA1) | ||
| NR_147230.2:n.1586A>G (TIA1) | ||
| NR_147231.2:n.1398A>G (TIA1) | ||
| NR_147232.2:n.1271A>G (TIA1) |