Linked Data
ClinVar Variation Id:
2602155
ClinVar RCV Id:
RCV004350133
dbSNP Id:
rs756668186
ExAC:
3:9870888 G / A
gnomAD v2:
3-9870888-G-A
gnomAD v3:
3-9829204-G-A
gnomAD v4:
3-9829204-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.9829204G>A , CM000665.2:g.9829204G>A | GRCh38 |
| NC_000003.11:g.9870888G>A , CM000665.1:g.9870888G>A | GRCh37 |
| NC_000003.10:g.9845888G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703870.1:c.1492G>A (TTLL3) | ENSP00000515513.1:p.Ala498Thr | |
| ENST00000426895.10:c.1363G>A (TTLL3) | ENSP00000392549.5:p.Ala455Thr | |
| ENST00000685419.1:c.1492G>A (TTLL3) MANE Select | ENSP00000510679.1:p.Ala498Thr | |
| ENST00000426895.9:c.1792G>A (TTLL3) | ENSP00000392549.4:p.Ala598Thr | |
| ENST00000310252.11:c.1229G>A (TTLL3) | ||
| ENST00000383827.5:c.727G>A (TTLL3) | ENSP00000373338.1:p.Ala243Thr | |
| ENST00000397256.5:c.1546G>A (ARPC4-TTLL3) | ENSP00000380427.1:p.Ala516Thr | |
| ENST00000426895.8:c.1792G>A (TTLL3) | ENSP00000392549.4:p.Ala598Thr | |
| ENST00000427220.5:c.*979G>A (TTLL3) | ENSP00000395912.1:n.*979G>A | |
| ENST00000430390.5:c.945G>A (TTLL3) | ||
| ENST00000430793.1:c.727G>A (TTLL3) | ENSP00000403874.1:p.Ala243Thr | |
| ENST00000431204.5:c.*453G>A (TTLL3) | ENSP00000398996.1:n.*453G>A | |
| ENST00000438141.5:c.727G>A (TTLL3) | ENSP00000409246.1:p.Ala243Thr | |
| ENST00000443148.5:c.1177G>A (TTLL3) | ENSP00000398097.1:p.Ala393Thr | |
| ENST00000455274.5:c.727G>A (TTLL3) | ENSP00000409632.1:p.Ala243Thr | |
| ENST00000466245.1:n.485G>A (TTLL3) | ||
| ENST00000471058.1:c.42G>A (TTLL3) | ||
| ENST00000473661.5:c.*258G>A (TTLL3) | ENSP00000430051.1:n.*258G>A | |
| ENST00000483051.5:n.2208G>A (TTLL3) | ||
| ENST00000496526.5:n.4335G>A (TTLL3) | ||
| NM_001025930.3:c.1792G>A (TTLL3) | NP_001021100.3:p.Ala598Thr | |
| NM_001198793.1:c.1546G>A (ARPC4-TTLL3) | NP_001185722.1:p.Ala516Thr | |
| NR_037162.1:n.2293G>A (TTLL3) | ||
| NM_001025930.4:c.1792G>A (TTLL3) | NP_001021100.3:p.Ala598Thr | |
| NM_001366051.1:c.1363G>A (TTLL3) | NP_001352980.1:p.Ala455Thr | |
| NM_001025930.5:c.1792G>A (TTLL3) | NP_001021100.3:p.Ala598Thr | |
| NM_001366051.2:c.1363G>A (TTLL3) | NP_001352980.1:p.Ala455Thr | |
| NR_037162.2:n.1991G>A (TTLL3) | ||
| NM_001387446.1:c.1492G>A (TTLL3) MANE Select | NP_001374375.1:p.Ala498Thr | |
| NM_001387447.1:c.1324G>A (TTLL3) | NP_001374376.1:p.Ala442Thr | |
| NM_001387448.1:c.1363G>A (TTLL3) | NP_001374377.1:p.Ala455Thr | |
| NM_001387449.1:c.1363G>A (TTLL3) | NP_001374378.1:p.Ala455Thr | |
| NM_001387450.1:c.1537G>A (TTLL3) | NP_001374379.1:p.Ala513Thr | |
| NM_001387451.1:c.1393G>A (TTLL3) | NP_001374380.1:p.Ala465Thr | |
| NM_001387452.1:c.1264G>A (TTLL3) | NP_001374381.1:p.Ala422Thr | |
| NM_001387453.1:c.1264G>A (TTLL3) | NP_001374382.1:p.Ala422Thr | |
| NM_001387454.1:c.1492G>A (TTLL3) | NP_001374383.1:p.Ala498Thr | |
| NM_001387455.1:c.1492G>A (TTLL3) | NP_001374384.1:p.Ala498Thr | |
| NM_001387456.1:c.1492G>A (TTLL3) | NP_001374385.1:p.Ala498Thr | |
| NM_001387457.1:c.1324G>A (TTLL3) | NP_001374386.1:p.Ala442Thr | |
| NM_001387458.1:c.1264G>A (TTLL3) | NP_001374387.1:p.Ala422Thr | |
| NM_001387459.1:c.1393G>A (TTLL3) | NP_001374388.1:p.Ala465Thr | |
| NM_001387460.1:c.1393G>A (TTLL3) | NP_001374389.1:p.Ala465Thr | |
| NM_001387461.1:c.1363G>A (TTLL3) | NP_001374390.1:p.Ala455Thr | |
| NM_001387462.1:c.1360G>A (TTLL3) | NP_001374391.1:p.Ala454Thr | |
| NM_001387463.1:c.1264G>A (TTLL3) | NP_001374392.1:p.Ala422Thr | |
| NM_001387464.1:c.1225G>A (TTLL3) | NP_001374393.1:p.Ala409Thr | |
| NM_001387465.1:c.1225G>A (TTLL3) | NP_001374394.1:p.Ala409Thr | |
| NM_001387466.1:c.1000G>A (TTLL3) | NP_001374395.1:p.Ala334Thr | |
| NM_001387467.1:c.727G>A (TTLL3) | NP_001374396.1:p.Ala243Thr | |
| NR_170661.1:n.1409G>A (TTLL3) | ||
| NR_170662.1:n.1082G>A (TTLL3) | ||
| NR_170663.1:n.1127G>A (TTLL3) | ||
| NR_170664.1:n.1289G>A (TTLL3) | ||
| NR_170665.1:n.1323G>A (TTLL3) |