Linked Data
ClinVar Variation Id:
458842
ClinVar RCV Id:
RCV000535531
dbSNP Id:
rs79075815
ExAC:
2:70441591 C / T
gnomAD v2:
2-70441591-C-T
gnomAD v3:
2-70214459-C-T
gnomAD v4:
2-70214459-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.70214459C>T , CM000664.2:g.70214459C>T | GRCh38 |
| NC_000002.11:g.70441591C>T , CM000664.1:g.70441591C>T | GRCh37 |
| NC_000002.10:g.70295095C>T | NCBI36 |
| NG_029967.1:g.39189G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433529.7:c.924G>A (TIA1) MANE Select | ENSP00000401371.2:p.Gln308= | |
| ENST00000282574.8:c.921G>A (TIA1) | ENSP00000282574.4:p.Gln307= | |
| ENST00000415783.6:c.891G>A (TIA1) | ENSP00000404023.2:p.Gln297= | |
| ENST00000433529.6:c.924G>A (TIA1) | ENSP00000401371.2:p.Gln308= | |
| ENST00000445587.5:c.732-1614G>A (TIA1) | ENSP00000399567.1:n.732-1614G>A | |
| ENST00000454815.6:c.237G>A (TIA1) | ENSP00000402263.2:p.Gln79= | |
| ENST00000468787.5:n.430G>A (TIA1) | ||
| ENST00000470096.1:n.212-32462G>A (C2orf42) | ||
| ENST00000486392.5:n.234G>A (TIA1) | ||
| ENST00000495774.1:n.326G>A (TIA1) | ||
| NM_022037.2:c.891G>A (TIA1) | NP_071320.2:p.Gln297= | |
| NM_022173.2:c.924G>A (TIA1) | NP_071505.2:p.Gln308= | |
| XM_005264527.1:c.888G>A (TIA1) | XP_005264584.1:p.Gln296= | |
| XM_005264528.3:c.729G>A (TIA1) | XP_005264585.1:p.Gln243= | |
| XM_005264531.1:c.621G>A (TIA1) | XP_005264588.1:p.Gln207= | |
| XM_011533077.1:c.921G>A (TIA1) | XP_011531379.1:p.Gln307= | |
| XM_011533078.1:c.624G>A (TIA1) | XP_011531380.1:p.Gln208= | |
| XM_011533079.1:c.624G>A (TIA1) | XP_011531381.1:p.Gln208= | |
| XM_011533080.1:c.624G>A (TIA1) | XP_011531382.1:p.Gln208= | |
| XM_011533081.1:c.624G>A (TIA1) | XP_011531383.1:p.Gln208= | |
| XM_011533082.1:c.624G>A (TIA1) | XP_011531384.1:p.Gln208= | |
| XM_011533083.1:c.504G>A (TIA1) | XP_011531385.1:p.Gln168= | |
| XR_244955.1:n.1281G>A (TIA1) | ||
| XR_939714.1:n.1260G>A (TIA1) | ||
| XR_939715.1:n.1284G>A (TIA1) | ||
| NM_001351508.1:c.921G>A (TIA1) | NP_001338437.1:p.Gln307= | |
| NM_001351509.1:c.897G>A (TIA1) | NP_001338438.1:p.Gln299= | |
| NM_001351510.1:c.888G>A (TIA1) | NP_001338439.1:p.Gln296= | |
| NM_001351511.1:c.813G>A (TIA1) | NP_001338440.1:p.Gln271= | |
| NM_001351512.1:c.786G>A (TIA1) | NP_001338441.1:p.Gln262= | |
| NM_001351513.1:c.780G>A (TIA1) | NP_001338442.1:p.Gln260= | |
| NM_001351514.1:c.696G>A (TIA1) | NP_001338443.1:p.Gln232= | |
| NM_001351515.1:c.621G>A (TIA1) | NP_001338444.1:p.Gln207= | |
| NM_001351517.1:c.501G>A (TIA1) | NP_001338446.1:p.Gln167= | |
| NM_001351524.1:c.504G>A (TIA1) | NP_001338453.1:p.Gln168= | |
| NM_001351525.1:c.504G>A (TIA1) | NP_001338454.1:p.Gln168= | |
| NM_022037.3:c.891G>A (TIA1) | NP_071320.2:p.Gln297= | |
| NM_022173.3:c.924G>A (TIA1) | NP_071505.2:p.Gln308= | |
| NR_147216.1:n.1281G>A (TIA1) | ||
| NR_147217.1:n.1162G>A (TIA1) | ||
| NR_147218.1:n.1159G>A (TIA1) | ||
| NR_147219.1:n.1396G>A (TIA1) | ||
| NR_147220.1:n.1382G>A (TIA1) | ||
| NR_147221.1:n.1453G>A (TIA1) | ||
| NR_147222.1:n.1448G>A (TIA1) | ||
| NR_147223.1:n.1506G>A (TIA1) | ||
| NR_147224.1:n.1384G>A (TIA1) | ||
| NR_147225.1:n.1539G>A (TIA1) | ||
| NR_147226.1:n.1387G>A (TIA1) | ||
| NR_147227.1:n.1457G>A (TIA1) | ||
| NR_147228.1:n.1420G>A (TIA1) | ||
| NR_147229.1:n.1363G>A (TIA1) | ||
| NR_147230.1:n.1605G>A (TIA1) | ||
| NR_147231.1:n.1417G>A (TIA1) | ||
| NR_147232.1:n.1290G>A (TIA1) | ||
| XM_005264528.5:c.729G>A (TIA1) | XP_005264585.1:p.Gln243= | |
| XM_005264531.2:c.621G>A (TIA1) | XP_005264588.1:p.Gln207= | |
| XM_011533082.2:c.624G>A (TIA1) | XP_011531384.1:p.Gln208= | |
| XM_017004792.1:c.624G>A (TIA1) | XP_016860281.1:p.Gln208= | |
| XM_017004793.2:c.624G>A (TIA1) | XP_016860282.1:p.Gln208= | |
| XM_017004794.1:c.624G>A (TIA1) | XP_016860283.1:p.Gln208= | |
| XM_017004795.1:c.621G>A (TIA1) | XP_016860284.1:p.Gln207= | |
| XM_017004796.1:c.504G>A (TIA1) | XP_016860285.1:p.Gln168= | |
| XM_017004800.1:c.504G>A (TIA1) | XP_016860289.1:p.Gln168= | |
| XM_024453063.1:c.504G>A (TIA1) | XP_024308831.1:p.Gln168= | |
| XM_024453064.1:c.504G>A (TIA1) | XP_024308832.1:p.Gln168= | |
| XM_024453065.1:c.504G>A (TIA1) | XP_024308833.1:p.Gln168= | |
| XM_024453066.1:c.504G>A (TIA1) | XP_024308834.1:p.Gln168= | |
| XM_024453067.1:c.501G>A (TIA1) | XP_024308835.1:p.Gln167= | |
| XR_002959329.1:n.4508G>A (TIA1) | ||
| XR_002959330.1:n.2342G>A (TIA1) | ||
| XR_002959331.1:n.4505G>A (TIA1) | ||
| XR_002959332.1:n.2048G>A (TIA1) | ||
| NM_022173.4:c.924G>A (TIA1) MANE Select | NP_071505.2:p.Gln308= | |
| NM_001351508.2:c.921G>A (TIA1) | NP_001338437.1:p.Gln307= | |
| NM_001351509.2:c.897G>A (TIA1) | NP_001338438.1:p.Gln299= | |
| NM_001351510.2:c.888G>A (TIA1) | NP_001338439.1:p.Gln296= | |
| NM_001351514.2:c.696G>A (TIA1) | NP_001338443.1:p.Gln232= | |
| NM_001351515.2:c.621G>A (TIA1) | NP_001338444.1:p.Gln207= | |
| NM_001351517.2:c.501G>A (TIA1) | NP_001338446.1:p.Gln167= | |
| NM_001351524.2:c.504G>A (TIA1) | NP_001338453.1:p.Gln168= | |
| NM_001351525.2:c.504G>A (TIA1) | NP_001338454.1:p.Gln168= | |
| NM_022037.4:c.891G>A (TIA1) | NP_071320.2:p.Gln297= | |
| NR_147219.2:n.1231G>A (TIA1) | ||
| NR_147220.2:n.1217G>A (TIA1) | ||
| NR_147221.2:n.1288G>A (TIA1) | ||
| NR_147222.2:n.1283G>A (TIA1) | ||
| NR_147223.2:n.1341G>A (TIA1) | ||
| NR_147224.2:n.1219G>A (TIA1) | ||
| NR_147225.2:n.1374G>A (TIA1) | ||
| NR_147226.2:n.1222G>A (TIA1) | ||
| NR_147227.2:n.1292G>A (TIA1) | ||
| NR_147228.2:n.1255G>A (TIA1) | ||
| NR_147229.2:n.1198G>A (TIA1) | ||
| NR_147230.2:n.1440G>A (TIA1) | ||
| NR_147231.2:n.1252G>A (TIA1) | ||
| NR_147232.2:n.1125G>A (TIA1) |